Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
Identifieur interne : 001975 ( Istex/Corpus ); précédent : 001974; suivant : 001976Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
Auteurs : Paulien A. Terhal ; Paula Van Dommelen ; Martine Le Merrer ; Andreas Zankl ; Marleen E. H. Simon ; Sarah F. Smithson ; Carlo Marcelis ; Bronwyn Kerr ; Esther Kinning ; Sahar Mansour ; Raoul C. M. Hennekam ; Annemarie H. Van Der Hout ; Valerie Cormier-Daire ; Allan M. Lund ; Linda Goodwin ; André Mégarbané ; Melissa Lees ; Regina C. Betz ; Edward S. Tobias ; Paul Coucke ; Geert R. MortierSource :
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics [ 1552-4868 ] ; 2012-08-15.
English descriptors
- KwdEn :
- Achondrogenesis type, Adult height, American journal, Arginine, Arginine substitutions, Article american journal, Asparagine, Asparagine substitutions, Centre utrecht, Clinical genetics, Collagen disorder, Cysteine, Cysteine substitutions, Czech dysplasia metatarsal type, Dysplasia, Dysplasia congenita, Femoral, Genet, Genet part, Genetics, Glycine, Glycine substitution, Glycine substitutions, Growth chart, Growth charts, Growth data, Height measurements, Helix, Hoornaert, Kniest, Kniest dysplasia, Last measurement, Medical genetics, Medical genetics part, Missense, Missense mutations, Mortier, Mutation, Nishimura, Normal stature, Other patients, Phenotype, Propeptide, Rimoin, Sedc, Serine, Short stature, Splice, Splice mutations, Splice site mutations, Stickler, Stickler syndrome, Substitution, Syndrome, Torrance, Triple helix, Valine substitutions.
- Teeft :
- Achondrogenesis type, Adult height, American journal, Arginine, Arginine substitutions, Article american journal, Asparagine, Asparagine substitutions, Centre utrecht, Clinical genetics, Collagen disorder, Cysteine, Cysteine substitutions, Czech dysplasia metatarsal type, Dysplasia, Dysplasia congenita, Femoral, Genet, Genet part, Genetics, Glycine, Glycine substitution, Glycine substitutions, Growth chart, Growth charts, Growth data, Height measurements, Helix, Hoornaert, Kniest, Kniest dysplasia, Last measurement, Medical genetics, Medical genetics part, Missense, Missense mutations, Mortier, Mutation, Nishimura, Normal stature, Other patients, Phenotype, Propeptide, Rimoin, Sedc, Serine, Short stature, Splice, Splice mutations, Splice site mutations, Stickler, Stickler syndrome, Substitution, Syndrome, Torrance, Triple helix, Valine substitutions.
Abstract
From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple‐helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C‐terminal propeptide have been plotted on the chart. Height of the patients progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is −2.6 SD at birth, −4.2 SD at 5 years, and −5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple‐helical region is 138.2 cm but there is a large variation. Patients with glycine to cysteine substitutions tend to cluster within the upper part of the chart, while patients with glycine to serine or valine substitutions are situated between +1 SD and −1 SD. Patients with carboxy‐terminal glycine substitutions tend to be shorter than patients with amino‐terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same family indicates that height remains a multifactorial trait even in the presence of a mutation with a strong dominant effect. © 2012 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.c.31332
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ISTEX:889F9BADC079B95FCE3D4FF0B15855720350A9D8Le document en format XML
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Terhal</name><affiliation><mods:affiliation>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: p.a.terhal@umcutrecht.nl</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan 6, 3584EA Utrecht, The Netherlands.</mods:affiliation></affiliation></author><author><name sortKey="Van Dommelen, Paula" sort="Van Dommelen, Paula" uniqKey="Van Dommelen P" first="Paula" last="Van Dommelen">Paula Van Dommelen</name><affiliation><mods:affiliation>Life Style, TNO, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><mods:affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><mods:affiliation>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia</mods:affiliation></affiliation></author><author><name sortKey="Simon, Marleen E H" sort="Simon, Marleen E H" uniqKey="Simon M" first="Marleen E. 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M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation><mods:affiliation>Academic Medical Center, Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H." last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation><mods:affiliation>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation><mods:affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lund, Allan M" sort="Lund, Allan M" uniqKey="Lund A" first="Allan M." last="Lund">Allan M. Lund</name><affiliation><mods:affiliation>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name><affiliation><mods:affiliation>Department of Genetics, Nepean Hospital, Penrith, Australia</mods:affiliation></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name><affiliation><mods:affiliation>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut, Lebanon</mods:affiliation></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation><mods:affiliation>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Betz, Regina C" sort="Betz, Regina C" uniqKey="Betz R" first="Regina C." last="Betz">Regina C. Betz</name><affiliation><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation></affiliation></author><author><name sortKey="Tobias, Edward S" sort="Tobias, Edward S" uniqKey="Tobias E" first="Edward S." last="Tobias">Edward S. Tobias</name><affiliation><mods:affiliation>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow, Scotland</mods:affiliation></affiliation></author><author><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name><affiliation><mods:affiliation>Department of Medical Genetics, University of Ghent, Ghent, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name><affiliation><mods:affiliation>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:889F9BADC079B95FCE3D4FF0B15855720350A9D8</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1002/ajmg.c.31332</idno><idno type="url">https://api.istex.fr/document/889F9BADC079B95FCE3D4FF0B15855720350A9D8/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001975</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001975</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mutation‐based growth charts for SEDC and other <hi rend="italic">COL2A1</hi> related dysplasias<ref type="note" target="#fn1"></ref></title><author><name sortKey="Terhal, Paulien A" sort="Terhal, Paulien A" uniqKey="Terhal P" first="Paulien A." last="Terhal">Paulien A. Terhal</name><affiliation><mods:affiliation>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: p.a.terhal@umcutrecht.nl</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan 6, 3584EA Utrecht, The Netherlands.</mods:affiliation></affiliation></author><author><name sortKey="Van Dommelen, Paula" sort="Van Dommelen, Paula" uniqKey="Van Dommelen P" first="Paula" last="Van Dommelen">Paula Van Dommelen</name><affiliation><mods:affiliation>Life Style, TNO, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><mods:affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><mods:affiliation>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia</mods:affiliation></affiliation></author><author><name sortKey="Simon, Marleen E H" sort="Simon, Marleen E H" uniqKey="Simon M" first="Marleen E. H." last="Simon">Marleen E. H. Simon</name><affiliation><mods:affiliation>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre, Rotterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Smithson, Sarah F" sort="Smithson, Sarah F" uniqKey="Smithson S" first="Sarah F." last="Smithson">Sarah F. Smithson</name><affiliation><mods:affiliation>Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK</mods:affiliation></affiliation></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><affiliation><mods:affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><affiliation><mods:affiliation>Department of Genetic Medicine, St Mary's Hospital, University of Manchester, Manchester, UK</mods:affiliation></affiliation></author><author><name sortKey="Kinning, Esther" sort="Kinning, Esther" uniqKey="Kinning E" first="Esther" last="Kinning">Esther Kinning</name><affiliation><mods:affiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK</mods:affiliation></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation><mods:affiliation>SW Thames Regional Genetics Service, St George's NHS Trust, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation><mods:affiliation>Academic Medical Center, Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H." last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation><mods:affiliation>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation><mods:affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lund, Allan M" sort="Lund, Allan M" uniqKey="Lund A" first="Allan M." last="Lund">Allan M. Lund</name><affiliation><mods:affiliation>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name><affiliation><mods:affiliation>Department of Genetics, Nepean Hospital, Penrith, Australia</mods:affiliation></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name><affiliation><mods:affiliation>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut, Lebanon</mods:affiliation></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation><mods:affiliation>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Betz, Regina C" sort="Betz, Regina C" uniqKey="Betz R" first="Regina C." last="Betz">Regina C. Betz</name><affiliation><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation></affiliation></author><author><name sortKey="Tobias, Edward S" sort="Tobias, Edward S" uniqKey="Tobias E" first="Edward S." last="Tobias">Edward S. Tobias</name><affiliation><mods:affiliation>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow, Scotland</mods:affiliation></affiliation></author><author><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name><affiliation><mods:affiliation>Department of Medical Genetics, University of Ghent, Ghent, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name><affiliation><mods:affiliation>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><title level="j" type="sub">New Topics in the Skeletal Dysplasias</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS PART C: SEMINARS IN MEDICAL GENETICS</title><idno type="ISSN">1552-4868</idno><idno type="eISSN">1552-4876</idno><imprint><biblScope unit="vol">160C</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="205">205</biblScope><biblScope unit="page" to="216">216</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-08-15">2012-08-15</date></imprint><idno type="ISSN">1552-4868</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4868</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Achondrogenesis type</term><term>Adult height</term><term>American journal</term><term>Arginine</term><term>Arginine substitutions</term><term>Article american journal</term><term>Asparagine</term><term>Asparagine substitutions</term><term>Centre utrecht</term><term>Clinical genetics</term><term>Collagen disorder</term><term>Cysteine</term><term>Cysteine substitutions</term><term>Czech dysplasia metatarsal type</term><term>Dysplasia</term><term>Dysplasia congenita</term><term>Femoral</term><term>Genet</term><term>Genet part</term><term>Genetics</term><term>Glycine</term><term>Glycine substitution</term><term>Glycine substitutions</term><term>Growth chart</term><term>Growth charts</term><term>Growth data</term><term>Height measurements</term><term>Helix</term><term>Hoornaert</term><term>Kniest</term><term>Kniest dysplasia</term><term>Last measurement</term><term>Medical genetics</term><term>Medical genetics part</term><term>Missense</term><term>Missense mutations</term><term>Mortier</term><term>Mutation</term><term>Nishimura</term><term>Normal stature</term><term>Other patients</term><term>Phenotype</term><term>Propeptide</term><term>Rimoin</term><term>Sedc</term><term>Serine</term><term>Short stature</term><term>Splice</term><term>Splice mutations</term><term>Splice site mutations</term><term>Stickler</term><term>Stickler syndrome</term><term>Substitution</term><term>Syndrome</term><term>Torrance</term><term>Triple helix</term><term>Valine substitutions</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Achondrogenesis type</term><term>Adult height</term><term>American journal</term><term>Arginine</term><term>Arginine substitutions</term><term>Article american journal</term><term>Asparagine</term><term>Asparagine substitutions</term><term>Centre utrecht</term><term>Clinical genetics</term><term>Collagen disorder</term><term>Cysteine</term><term>Cysteine substitutions</term><term>Czech dysplasia metatarsal type</term><term>Dysplasia</term><term>Dysplasia congenita</term><term>Femoral</term><term>Genet</term><term>Genet part</term><term>Genetics</term><term>Glycine</term><term>Glycine substitution</term><term>Glycine substitutions</term><term>Growth chart</term><term>Growth charts</term><term>Growth data</term><term>Height measurements</term><term>Helix</term><term>Hoornaert</term><term>Kniest</term><term>Kniest dysplasia</term><term>Last measurement</term><term>Medical genetics</term><term>Medical genetics part</term><term>Missense</term><term>Missense mutations</term><term>Mortier</term><term>Mutation</term><term>Nishimura</term><term>Normal stature</term><term>Other patients</term><term>Phenotype</term><term>Propeptide</term><term>Rimoin</term><term>Sedc</term><term>Serine</term><term>Short stature</term><term>Splice</term><term>Splice mutations</term><term>Splice site mutations</term><term>Stickler</term><term>Stickler syndrome</term><term>Substitution</term><term>Syndrome</term><term>Torrance</term><term>Triple helix</term><term>Valine substitutions</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple‐helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C‐terminal propeptide have been plotted on the chart. Height of the patients progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is −2.6 SD at birth, −4.2 SD at 5 years, and −5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple‐helical region is 138.2 cm but there is a large variation. Patients with glycine to cysteine substitutions tend to cluster within the upper part of the chart, while patients with glycine to serine or valine substitutions are situated between +1 SD and −1 SD. Patients with carboxy‐terminal glycine substitutions tend to be shorter than patients with amino‐terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same family indicates that height remains a multifactorial trait even in the presence of a mutation with a strong dominant effect. © 2012 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>glycine</json:string><json:string>genetics</json:string><json:string>helix</json:string><json:string>sedc</json:string><json:string>triple helix</json:string><json:string>glycine substitutions</json:string><json:string>genet</json:string><json:string>growth chart</json:string><json:string>substitution</json:string><json:string>cysteine</json:string><json:string>stickler syndrome</json:string><json:string>arginine</json:string><json:string>dysplasia</json:string><json:string>glycine substitution</json:string><json:string>medical genetics</json:string><json:string>adult height</json:string><json:string>medical genetics part</json:string><json:string>phenotype</json:string><json:string>hoornaert</json:string><json:string>kniest</json:string><json:string>mortier</json:string><json:string>propeptide</json:string><json:string>nishimura</json:string><json:string>american journal</json:string><json:string>cysteine substitutions</json:string><json:string>rimoin</json:string><json:string>splice</json:string><json:string>splice mutations</json:string><json:string>femoral</json:string><json:string>growth charts</json:string><json:string>serine</json:string><json:string>asparagine</json:string><json:string>missense</json:string><json:string>torrance</json:string><json:string>splice site mutations</json:string><json:string>kniest dysplasia</json:string><json:string>missense mutations</json:string><json:string>normal stature</json:string><json:string>genet part</json:string><json:string>clinical genetics</json:string><json:string>syndrome</json:string><json:string>collagen disorder</json:string><json:string>valine substitutions</json:string><json:string>stickler</json:string><json:string>arginine substitutions</json:string><json:string>height measurements</json:string><json:string>growth data</json:string><json:string>other patients</json:string><json:string>short stature</json:string><json:string>last measurement</json:string><json:string>centre utrecht</json:string><json:string>asparagine substitutions</json:string><json:string>article american journal</json:string><json:string>czech dysplasia metatarsal type</json:string><json:string>dysplasia congenita</json:string><json:string>achondrogenesis type</json:string></teeft></keywords><author><json:item><name>Paulien A. Terhal</name><affiliations><json:string>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands</json:string><json:string>E-mail: p.a.terhal@umcutrecht.nl</json:string><json:string>Correspondence address: Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan 6, 3584EA Utrecht, The Netherlands.</json:string></affiliations></json:item><json:item><name>Paula van Dommelen</name><affiliations><json:string>Life Style, TNO, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>Martine Le Merrer</name><affiliations><json:string>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Andreas Zankl</name><affiliations><json:string>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia</json:string></affiliations></json:item><json:item><name>Marleen E.H. Simon</name><affiliations><json:string>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre, Rotterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Sarah F. Smithson</name><affiliations><json:string>Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK</json:string></affiliations></json:item><json:item><name>Carlo Marcelis</name><affiliations><json:string>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</json:string></affiliations></json:item><json:item><name>Bronwyn Kerr</name><affiliations><json:string>Department of Genetic Medicine, St Mary's Hospital, University of Manchester, Manchester, UK</json:string></affiliations></json:item><json:item><name>Esther Kinning</name><affiliations><json:string>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK</json:string></affiliations></json:item><json:item><name>Sahar Mansour</name><affiliations><json:string>SW Thames Regional Genetics Service, St George's NHS Trust, London, UK</json:string></affiliations></json:item><json:item><name>Raoul C.M. Hennekam</name><affiliations><json:string>Academic Medical Center, Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Annemarie H. van der Hout</name><affiliations><json:string>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</json:string></affiliations></json:item><json:item><name>Valerie Cormier‐Daire</name><affiliations><json:string>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Allan M. Lund</name><affiliations><json:string>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</json:string></affiliations></json:item><json:item><name>Linda Goodwin</name><affiliations><json:string>Department of Genetics, Nepean Hospital, Penrith, Australia</json:string></affiliations></json:item><json:item><name>André Mégarbané</name><affiliations><json:string>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut, Lebanon</json:string></affiliations></json:item><json:item><name>Melissa Lees</name><affiliations><json:string>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK</json:string></affiliations></json:item><json:item><name>Regina C. Betz</name><affiliations><json:string>Institute of Human Genetics, University of Bonn, Bonn, Germany</json:string></affiliations></json:item><json:item><name>Edward S. Tobias</name><affiliations><json:string>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow, Scotland</json:string></affiliations></json:item><json:item><name>Paul Coucke</name><affiliations><json:string>Department of Medical Genetics, University of Ghent, Ghent, Belgium</json:string></affiliations></json:item><json:item><name>Geert R. Mortier</name><affiliations><json:string>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>growth</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>COL2A1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>spondylo‐epiphyseal dysplasia congenita</value></json:item></subject><articleId><json:string>AJMG31332</json:string></articleId><arkIstex>ark:/67375/WNG-SB39H7B1-2</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple‐helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C‐terminal propeptide have been plotted on the chart. Height of the patients progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is −2.6 SD at birth, −4.2 SD at 5 years, and −5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple‐helical region is 138.2 cm but there is a large variation. Patients with glycine to cysteine substitutions tend to cluster within the upper part of the chart, while patients with glycine to serine or valine substitutions are situated between +1 SD and −1 SD. Patients with carboxy‐terminal glycine substitutions tend to be shorter than patients with amino‐terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same family indicates that height remains a multifactorial trait even in the presence of a mutation with a strong dominant effect. © 2012 Wiley Periodicals, Inc.</abstract><qualityIndicators><score>10</score><pdfWordCount>5804</pdfWordCount><pdfCharCount>37038</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>12</pdfPageCount><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>252</abstractWordCount><abstractCharCount>1685</abstractCharCount><keywordCount>3</keywordCount></qualityIndicators><title>Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias</title><pmid><json:string>22791362</json:string></pmid><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1552-4876</json:string></doi><issn><json:string>1552-4868</json:string></issn><eissn><json:string>1552-4876</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>160C</volume><issue>3</issue><pages><first>205</first><last>216</last><total>12</total></pages><genre><json:string>journal</json:string></genre><author><json:item><name>Sheila Unger</name></json:item><json:item><name>Luisa Bonafé</name></json:item><json:item><name>Andrea Superti‐Furga</name></json:item></author><subject><json:item><value>Article</value></json:item></subject></host><namedEntities><unitex><date><json:string>2009</json:string><json:string>2012</json:string></date><geogName></geogName><orgName><json:string>Wiley Periodicals, Inc.</json:string><json:string>University of Queensland Centre</json:string><json:string>Department of Genetics, Nepean Hospital, Penrith, Australia</json:string><json:string>Department of Clinical Genetics, St</json:string><json:string>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</json:string><json:string>ARTICLE AMERICAN JOURNAL OF MEDICAL GENETICS PART</json:string><json:string>Institutional Review Board of the University Medical Centre Utrecht</json:string><json:string>Paris Descartes University</json:string><json:string>Department of Genetic Medicine, St Mary</json:string><json:string>France Department of Genetics, INSERM U</json:string><json:string>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</json:string><json:string>Department of Medical Genetics, University of Ghent, Ghent, Belgium</json:string><json:string>Clinical Research, University of Queensland, Brisbane, Australia</json:string><json:string>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</json:string><json:string>Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan</json:string><json:string>German Research Foundation</json:string><json:string>Erasmus Medical Center</json:string><json:string>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands Life Style, TNO, Leiden, The Netherlands</json:string><json:string>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK</json:string><json:string>University of Glasgow</json:string><json:string>Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands</json:string><json:string>Department of Clinical Genetics, University Medical Centre, Rotterdam, The Netherlands</json:string><json:string>Academic Medical Center</json:string><json:string>WHO Multicentre Growth Reference Study Group</json:string><json:string>Yorkhill Hospital, Glasgow, UK</json:string><json:string>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium</json:string><json:string>Michael’s Hospital, Bristol, UK</json:string><json:string>Netherlands, Belgium, Germany, France, Austria, United Kingdom, Scotland, Denmark, and Spain</json:string><json:string>DFG</json:string><json:string>AMERICAN JOURNAL OF MEDICAL GENETICS PART</json:string><json:string>Institute of Human Genetics, University of Bonn, Bonn, Germany</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Val Gly</json:string><json:string>I. Individuals</json:string><json:string>Gly</json:string><json:string>Ala Arg</json:string><json:string>From</json:string><json:string>Paulien A. Terhal</json:string><json:string>Professorship</json:string></persName><placeName><json:string>Lund</json:string><json:string>Utrecht</json:string><json:string>Australia</json:string><json:string>UK</json:string><json:string>London</json:string><json:string>American</json:string><json:string>Lebanon</json:string><json:string>Europe</json:string><json:string>Manchester</json:string><json:string>United Kingdom</json:string><json:string>Israel</json:string><json:string>Beirut</json:string><json:string>Netherlands</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Snead and Yates, 1999</json:string><json:string>Nishimura et al., 2004</json:string><json:string>van Buuren and Fredriks, 2001</json:string><json:string>Hoornaert et al., 2010</json:string><json:string>Weis et al., 1998</json:string><json:string>Miyamoto et al., 2007</json:string><json:string>Ahmad et al., 1991</json:string><json:string>Hoornaert et al. [2010]</json:string><json:string>Horton et al. 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2006</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-SB39H7B1-2</json:string></ark><categories><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>2012</publicationDate><copyrightDate>2012</copyrightDate><doi><json:string>10.1002/ajmg.c.31332</json:string></doi><id>889F9BADC079B95FCE3D4FF0B15855720350A9D8</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/889F9BADC079B95FCE3D4FF0B15855720350A9D8/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/889F9BADC079B95FCE3D4FF0B15855720350A9D8/fulltext/zip</uri></json:item><istex:fulltextTEI 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xml:lang="en">Mutation‐based growth charts for SEDC and other <hi rend="italic">COL2A1</hi> related dysplasias<ref type="note" target="#fn1"></ref></title><title level="a" type="short" xml:lang="en">AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">Paulien A.</forename><surname>Terhal</surname></persName><email>p.a.terhal@umcutrecht.nl</email><affiliation>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands<address><country key="NL"></country></address></affiliation><affiliation>Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan 6, 3584EA Utrecht, The Netherlands.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Paula</forename><surname>van Dommelen</surname></persName><affiliation>Life Style, TNO, Leiden, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Martine</forename><surname>Le Merrer</surname></persName><affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Andreas</forename><surname>Zankl</surname></persName><affiliation>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Marleen E.H.</forename><surname>Simon</surname></persName><affiliation>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre, Rotterdam, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Sarah F.</forename><surname>Smithson</surname></persName><affiliation>Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Carlo</forename><surname>Marcelis</surname></persName><affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Bronwyn</forename><surname>Kerr</surname></persName><affiliation>Department of Genetic Medicine, St Mary's Hospital, University of Manchester, Manchester, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">Esther</forename><surname>Kinning</surname></persName><affiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Sahar</forename><surname>Mansour</surname></persName><affiliation>SW Thames Regional Genetics Service, St George's NHS Trust, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Raoul C.M.</forename><surname>Hennekam</surname></persName><affiliation>Academic Medical Center, Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">Annemarie H.</forename><surname>van der Hout</surname></persName><affiliation>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">Valerie</forename><surname>Cormier‐Daire</surname></persName><affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0013"><persName><forename type="first">Allan M.</forename><surname>Lund</surname></persName><affiliation>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark<address><country key="DK"></country></address></affiliation></author><author xml:id="author-0014"><persName><forename type="first">Linda</forename><surname>Goodwin</surname></persName><affiliation>Department of Genetics, Nepean Hospital, Penrith, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0015"><persName><forename type="first">André</forename><surname>Mégarbané</surname></persName><affiliation>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut, Lebanon<address><country key="LB"></country></address></affiliation></author><author xml:id="author-0016"><persName><forename type="first">Melissa</forename><surname>Lees</surname></persName><affiliation>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0017"><persName><forename type="first">Regina C.</forename><surname>Betz</surname></persName><affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0018"><persName><forename type="first">Edward S.</forename><surname>Tobias</surname></persName><affiliation>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow, Scotland<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0019"><persName><forename type="first">Paul</forename><surname>Coucke</surname></persName><affiliation>Department of Medical Genetics, University of Ghent, Ghent, Belgium<address><country key="BE"></country></address></affiliation></author><author xml:id="author-0020"><persName><forename type="first">Geert R.</forename><surname>Mortier</surname></persName><affiliation>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium<address><country key="BE"></country></address></affiliation></author><idno type="istex">889F9BADC079B95FCE3D4FF0B15855720350A9D8</idno><idno type="ark">ark:/67375/WNG-SB39H7B1-2</idno><idno type="DOI">10.1002/ajmg.c.31332</idno><idno type="unit">AJMG31332</idno><idno type="toTypesetVersion">file:AJMG.AJMG31332.pdf</idno></analytic><monogr><editor xml:id="editor-0000"><persName><forename type="first">Sheila</forename><surname>Unger</surname></persName></editor><editor xml:id="editor-0001"><persName><forename type="first">Luisa</forename><surname>Bonafé</surname></persName></editor><editor xml:id="editor-0002"><persName><forename type="first">Andrea</forename><surname>Superti‐Furga</surname></persName></editor><title level="j" type="main">American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><title level="j" type="sub">New Topics in the Skeletal Dysplasias</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS PART C: SEMINARS IN MEDICAL GENETICS</title><idno type="pISSN">1552-4868</idno><idno type="eISSN">1552-4876</idno><idno type="book-DOI">10.1002/(ISSN)1552-4876</idno><idno type="book-part-DOI">10.1002/ajmg.c.v160c.3</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">160C</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="205">205</biblScope><biblScope unit="page" to="216">216</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-08-15"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other <hi rend="italic">COL2A1</hi> related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple‐helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C‐terminal propeptide have been plotted on the chart. Height of the patients progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is −2.6 SD at birth, −4.2 SD at 5 years, and −5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple‐helical region is 138.2 cm but there is a large variation. Patients with glycine to cysteine substitutions tend to cluster within the upper part of the chart, while patients with glycine to serine or valine substitutions are situated between +1 SD and −1 SD. Patients with carboxy‐terminal glycine substitutions tend to be shorter than patients with amino‐terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same family indicates that height remains a multifactorial trait even in the presence of a mutation with a strong dominant effect. © 2012 Wiley Periodicals, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">growth</term><term xml:id="kwd2"><hi rend="italic">COL2A1</hi></term><term xml:id="kwd3">spondylo‐epiphyseal dysplasia congenita</term></keywords><keywords rend="articleCategory"><term>Article</term></keywords><keywords rend="tocHeading1"><term>Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/889F9BADC079B95FCE3D4FF0B15855720350A9D8/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1552-4876</doi><issn type="print">1552-4868</issn><issn type="electronic">1552-4876</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS PART C: SEMINARS IN MEDICAL GENETICS">American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><title type="short">Am. 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number="6849"></count></countGroup><titleGroup><title type="main" xml:lang="en">Mutation‐based growth charts for SEDC and other <i>COL2A1</i> related dysplasias<link href="#fn1"></link></title><title type="short" xml:lang="en">AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Paulien A.</givenNames><familyName>Terhal</familyName></personName><contactDetails><email>p.a.terhal@umcutrecht.nl</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Paula</givenNames><familyName>van Dommelen</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Martine</givenNames><familyName>Le Merrer</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Andreas</givenNames><familyName>Zankl</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Marleen E.H.</givenNames><familyName>Simon</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Sarah F.</givenNames><familyName>Smithson</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Carlo</givenNames><familyName>Marcelis</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Bronwyn</givenNames><familyName>Kerr</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af9"><personName><givenNames>Esther</givenNames><familyName>Kinning</familyName></personName></creator><creator xml:id="au10" creatorRole="author" 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R.</givenNames><familyName>Mortier</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="NL" type="organization"><unparsedAffiliation>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="NL" type="organization"><unparsedAffiliation>Life Style, TNO, Leiden, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="AU" type="organization"><unparsedAffiliation>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="NL" type="organization"><unparsedAffiliation>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre, Rotterdam, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="GB" type="organization"><unparsedAffiliation>Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="NL" type="organization"><unparsedAffiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="GB" type="organization"><unparsedAffiliation>Department of Genetic Medicine, St Mary's Hospital, University of Manchester, Manchester, UK</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="GB" type="organization"><unparsedAffiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, 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type="organization"><unparsedAffiliation>Department of Genetics, Nepean Hospital, Penrith, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af15" countryCode="LB" type="organization"><unparsedAffiliation>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut, Lebanon</unparsedAffiliation></affiliation><affiliation xml:id="af16" countryCode="GB" type="organization"><unparsedAffiliation>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK</unparsedAffiliation></affiliation><affiliation xml:id="af17" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af18" countryCode="GB" type="organization"><unparsedAffiliation>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow, 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Additional supporting information may be found in the online version of this article.
</p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524868:media:ajmg31332:ajmg_31332_sm_SuppTabI"></mediaResource><caption>Table I: Patient characteristics.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other <i>COL2A1</i> related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple‐helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C‐terminal propeptide have been plotted on the chart. Height of the patients progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is −2.6 SD at birth, −4.2 SD at 5 years, and −5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple‐helical region is 138.2 cm but there is a large variation. Patients with glycine to cysteine substitutions tend to cluster within the upper part of the chart, while patients with glycine to serine or valine substitutions are situated between +1 SD and −1 SD. Patients with carboxy‐terminal glycine substitutions tend to be shorter than patients with amino‐terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same family indicates that height remains a multifactorial trait even in the presence of a mutation with a strong dominant effect. © 2012 Wiley Periodicals, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to cite this article: Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon MEH, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RCM, van der Hout AH, Cormier‐Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR. 2012. Mutation‐based growth charts for SEDC and other <i>COL2A1</i> related dysplasias. Am J Med Genet Part C.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias</title></titleInfo><name type="personal"><namePart type="given">Paulien A.</namePart><namePart type="family">Terhal</namePart><affiliation>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands</affiliation><affiliation>E-mail: p.a.terhal@umcutrecht.nl</affiliation><affiliation>Correspondence address: Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan 6, 3584EA Utrecht, The Netherlands.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paula</namePart><namePart type="family">van Dommelen</namePart><affiliation>Life Style, TNO, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martine</namePart><namePart type="family">Le Merrer</namePart><affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andreas</namePart><namePart type="family">Zankl</namePart><affiliation>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marleen E.H.</namePart><namePart type="family">Simon</namePart><affiliation>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre, Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah F.</namePart><namePart type="family">Smithson</namePart><affiliation>Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carlo</namePart><namePart type="family">Marcelis</namePart><affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bronwyn</namePart><namePart type="family">Kerr</namePart><affiliation>Department of Genetic Medicine, St Mary's Hospital, University of Manchester, Manchester, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Esther</namePart><namePart type="family">Kinning</namePart><affiliation>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sahar</namePart><namePart type="family">Mansour</namePart><affiliation>SW Thames Regional Genetics Service, St George's NHS Trust, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Raoul C.M.</namePart><namePart type="family">Hennekam</namePart><affiliation>Academic Medical Center, Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annemarie H.</namePart><namePart type="family">van der Hout</namePart><affiliation>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Valerie</namePart><namePart type="family">Cormier‐Daire</namePart><affiliation>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Allan M.</namePart><namePart type="family">Lund</namePart><affiliation>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Linda</namePart><namePart type="family">Goodwin</namePart><affiliation>Department of Genetics, Nepean Hospital, Penrith, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">André</namePart><namePart type="family">Mégarbané</namePart><affiliation>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut, Lebanon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Melissa</namePart><namePart type="family">Lees</namePart><affiliation>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Regina C.</namePart><namePart type="family">Betz</namePart><affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Edward S.</namePart><namePart type="family">Tobias</namePart><affiliation>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow, Scotland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul</namePart><namePart type="family">Coucke</namePart><affiliation>Department of Medical Genetics, University of Ghent, Ghent, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Geert R.</namePart><namePart type="family">Mortier</namePart><affiliation>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2012-08-15</dateIssued><copyrightDate encoding="w3cdtf">2012</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">5</extent><extent unit="tables">1</extent><extent unit="references">31</extent><extent unit="words">6849</extent></physicalDescription><abstract lang="en">From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple‐helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C‐terminal propeptide have been plotted on the chart. Height of the patients progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is −2.6 SD at birth, −4.2 SD at 5 years, and −5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple‐helical region is 138.2 cm but there is a large variation. Patients with glycine to cysteine substitutions tend to cluster within the upper part of the chart, while patients with glycine to serine or valine substitutions are situated between +1 SD and −1 SD. Patients with carboxy‐terminal glycine substitutions tend to be shorter than patients with amino‐terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same family indicates that height remains a multifactorial trait even in the presence of a mutation with a strong dominant effect. © 2012 Wiley Periodicals, Inc.</abstract><note type="content">*How to cite this article: Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon MEH, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RCM, van der Hout AH, Cormier‐Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR. 2012. Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias. 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