Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
Identifieur interne : 005635 ( Main/Exploration ); précédent : 005634; suivant : 005636Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
Auteurs : Paulien A. Terhal [Pays-Bas] ; Paula Van Dommelen [Pays-Bas] ; Martine Le Merrer [France] ; Andreas Zankl [Australie] ; Marleen E. H. Simon [Pays-Bas] ; Sarah F. Smithson [Royaume-Uni] ; Carlo Marcelis [Pays-Bas] ; Bronwyn Kerr [Royaume-Uni] ; Esther Kinning [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Raoul C. M. Hennekam [Pays-Bas] ; Annemarie H. Van Der Hout [Pays-Bas] ; Valerie Cormier-Daire [France] ; Allan M. Lund [Danemark] ; Linda Goodwin [Australie] ; André Mégarbané [Liban] ; Melissa Lees [Royaume-Uni] ; Regina C. Betz [Allemagne] ; Edward S. Tobias [Royaume-Uni] ; Paul Coucke [Belgique] ; Geert R. Mortier [Belgique]Source :
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics [ 1552-4868 ] ; 2012-08-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
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, Epiphyseal dysplasia, Femoral, Genet, Genet part, Genetics, Glycine, Glycine substitution, Glycine substitutions, Growth, 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
Affiliations:
- Allemagne, Australie, Belgique, Danemark, France, Liban, Pays-Bas, Royaume-Uni
- Angleterre, District de Cologne, Grand Londres, Grand Manchester, Groningue (province), Gueldre, Hollande-Méridionale, Hollande-Septentrionale, Hovedstaden, Rhénanie-du-Nord-Westphalie, Utrecht (province), Écosse, Île-de-France
- Amsterdam, Bonn, Copenhague, Groningue, Leyde, Londres, Manchester, Nimègue, Paris, Rotterdam, Utrecht
- Université d'Amsterdam, Université de Manchester
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001975
- to stream Istex, to step Curation: 001975
- to stream Istex, to step Checkpoint: 000560
- to stream Main, to step Merge: 005902
- to stream PascalFrancis, to step Corpus: 001087
- to stream PascalFrancis, to step Curation: 004E30
- to stream PascalFrancis, to step Checkpoint: 000F27
- to stream Main, to step Merge: 005D62
- to stream Main, to step Curation: 005635
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias</title><author><name sortKey="Terhal, Paulien A" sort="Terhal, Paulien A" uniqKey="Terhal P" first="Paulien A." last="Terhal">Paulien A. Terhal</name></author><author><name sortKey="Van Dommelen, Paula" sort="Van Dommelen, Paula" uniqKey="Van Dommelen P" first="Paula" last="Van Dommelen">Paula Van Dommelen</name></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name></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></author><author><name sortKey="Smithson, Sarah F" sort="Smithson, Sarah F" uniqKey="Smithson S" first="Sarah F." last="Smithson">Sarah F. Smithson</name></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name></author><author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name></author><author><name sortKey="Kinning, Esther" sort="Kinning, Esther" uniqKey="Kinning E" first="Esther" last="Kinning">Esther Kinning</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></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></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></author><author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name></author><author><name sortKey="Lund, Allan M" sort="Lund, Allan M" uniqKey="Lund A" first="Allan M." last="Lund">Allan M. Lund</name></author><author><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name></author><author><name sortKey="Betz, Regina C" sort="Betz, Regina C" uniqKey="Betz R" first="Regina C." last="Betz">Regina C. Betz</name></author><author><name sortKey="Tobias, Edward S" sort="Tobias, Edward S" uniqKey="Tobias E" first="Edward S." last="Tobias">Edward S. Tobias</name></author><author><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name></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><idno type="wicri:Area/Istex/Curation">001975</idno><idno type="wicri:Area/Istex/Checkpoint">000560</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000560</idno><idno type="wicri:doubleKey">1552-4868:2012:Terhal P:mutation:based:growth</idno><idno type="wicri:Area/Main/Merge">005902</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:12-0342842</idno><idno type="wicri:Area/PascalFrancis/Corpus">001087</idno><idno type="wicri:Area/PascalFrancis/Curation">004E30</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000F27</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000F27</idno><idno type="wicri:doubleKey">1552-4868:2012:Terhal P:mutation:based:growth</idno><idno type="wicri:Area/Main/Merge">005D62</idno><idno type="wicri:Area/Main/Curation">005635</idno><idno type="wicri:Area/Main/Exploration">005635</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 wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Pays-Bas</country></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Correspondence address: Department of Biomedical Genetics, University Medical Centre Utrecht, Lundlaan 6, 3584EA Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></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 wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Life Style, TNO, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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 wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland Centre for Clinical Research, University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></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 wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, St. Michael's Hospital, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Genetic Medicine, St Mary's Hospital, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Kinning, Esther" sort="Kinning, Esther" uniqKey="Kinning E" first="Esther" last="Kinning">Esther Kinning</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Ferguson‐Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="4"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Academic Medical Center, Department of Pediatrics, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></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 wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></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 wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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 wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetics, Nepean Hospital, Penrith</wicri:regionArea><wicri:noRegion>Penrith</wicri:noRegion></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR‐S910, Université Saint‐Joseph, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Great Ormond Street Hospital for Children, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></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 wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Écosse</region></placeName><wicri:cityArea>Medical Genetics,School of Medicine, Coll Med Vet & Life Sci, University of Glasgow</wicri:cityArea></affiliation></author><author><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Genetics, University of Ghent, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem</wicri:regionArea><wicri:noRegion>Edegem</wicri:noRegion></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>Epiphyseal dysplasia</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</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="Pascal" xml:lang="fr"><term>Croissance</term><term>Dysplasie épiphysaire</term><term>Mutation</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><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</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><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Danemark</li><li>France</li><li>Liban</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>District de Cologne</li><li>Grand Londres</li><li>Grand Manchester</li><li>Groningue (province)</li><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Hovedstaden</li><li>Rhénanie-du-Nord-Westphalie</li><li>Utrecht (province)</li><li>Écosse</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Bonn</li><li>Copenhague</li><li>Groningue</li><li>Leyde</li><li>Londres</li><li>Manchester</li><li>Nimègue</li><li>Paris</li><li>Rotterdam</li><li>Utrecht</li></settlement><orgName><li>Université d'Amsterdam</li><li>Université de Manchester</li></orgName></list><tree><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Terhal, Paulien A" sort="Terhal, Paulien A" uniqKey="Terhal P" first="Paulien A." last="Terhal">Paulien A. Terhal</name></region><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><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><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><name sortKey="Terhal, Paulien A" sort="Terhal, Paulien A" uniqKey="Terhal P" first="Paulien A." last="Terhal">Paulien A. Terhal</name><name sortKey="Terhal, Paulien A" sort="Terhal, Paulien A" uniqKey="Terhal P" first="Paulien A." last="Terhal">Paulien A. Terhal</name><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><name sortKey="Van Dommelen, Paula" sort="Van Dommelen, Paula" uniqKey="Van Dommelen P" first="Paula" last="Van Dommelen">Paula Van Dommelen</name></country><country name="France"><region name="Île-de-France"><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name></region><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name></country><country name="Australie"><noRegion><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name></noRegion><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Smithson, Sarah F" sort="Smithson, Sarah F" uniqKey="Smithson S" first="Sarah F." last="Smithson">Sarah F. Smithson</name></noRegion><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><name sortKey="Kinning, Esther" sort="Kinning, Esther" uniqKey="Kinning E" first="Esther" last="Kinning">Esther Kinning</name><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Tobias, Edward S" sort="Tobias, Edward S" uniqKey="Tobias E" first="Edward S." last="Tobias">Edward S. Tobias</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Lund, Allan M" sort="Lund, Allan M" uniqKey="Lund A" first="Allan M." last="Lund">Allan M. Lund</name></region></country><country name="Liban"><noRegion><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name></noRegion></country><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Betz, Regina C" sort="Betz, Regina C" uniqKey="Betz R" first="Regina C." last="Betz">Regina C. Betz</name></region></country><country name="Belgique"><noRegion><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name></noRegion><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005635 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005635 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:889F9BADC079B95FCE3D4FF0B15855720350A9D8
|texte= Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
}}
| This area was generated with Dilib version V0.6.33. |  |