Mutation-Based Growth Charts for SEDC and other COL2A1 Related Dysplasias
Identifieur interne : 004E30 ( PascalFrancis/Curation ); précédent : 004E29; suivant : 004E31Mutation-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] ; MEGARBANE [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.
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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.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Biomedical Genetics, University Medical Centre Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>1 aut.</sZ></inist:fA14><country>Pays-Bas</country></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="1"><inist:fA14 i1="02"><s1>Life Style, TNO</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ></inist:fA14><country>Pays-Bas</country></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="1"><inist:fA14 i1="03"><s1>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Queensland Centre for Clinical Research, University of Queensland</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>4 aut.</sZ></inist:fA14><country>Australie</country></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="1"><inist:fA14 i1="05"><s1>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country></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"><inist:fA14 i1="06"><s1>Department of Clinical Genetics, St. Michael's Hospital</s1><s2>Bristol</s2><s3>GBR</s3><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation></author><author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Genetic Medicine, St Mary's Hospital, University of Manchester</s1><s2>Manchester</s2><s3>GBR</s3><sZ>8 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Kinning, Esther" sort="Kinning, Esther" uniqKey="Kinning E" first="Esther" last="Kinning">Esther Kinning</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital</s1><s2>Glasgow</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>SW Thames Regional Genetics Service, St George's NHS Trust</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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="1"><inist:fA14 i1="11"><s1>Academic Medical Center, Department of Pediatrics, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country></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="1"><inist:fA14 i1="12"><s1>Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country></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="1"><inist:fA14 i1="13"><s1>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>14 aut.</sZ></inist:fA14><country>Danemark</country></affiliation></author><author><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Genetics, Nepean Hospital</s1><s2>Penrith</s2><s3>AUS</s3><sZ>15 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Megarbane" sort="Megarbane" uniqKey="Megarbane" last="Megarbane">MEGARBANE</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR-S910, Université Saint-Joseph</s1><s2>Beirut</s2><s3>LBN</s3><sZ>16 aut.</sZ></inist:fA14><country>Liban</country></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Clinical Genetics, Great Ormond Street Hospital for Children</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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="1"><inist:fA14 i1="17"><s1>Institute of Human Genetics, University of Bonn</s1><s2>Bonn</s2><s3>DEU</s3><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country></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="1"><inist:fA14 i1="18"><s1>Medical Genetics, School of Medicine, Coll Med Vet & Life Sci, University of Glasgow</s1><s2>Scotland</s2><s3>GBR</s3><sZ>19 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Medical Genetics, University of Ghent</s1><s2>Ghent</s2><s3>BEL</s3><sZ>20 aut.</sZ></inist:fA14><country>Belgique</country></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"><inist:fA14 i1="20"><s1>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp</s1><s2>Edegem</s2><s3>BEL</s3><sZ>21 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0342842</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0342842 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></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Biomedical Genetics, University Medical Centre Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>1 aut.</sZ></inist:fA14><country>Pays-Bas</country></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="1"><inist:fA14 i1="02"><s1>Life Style, TNO</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ></inist:fA14><country>Pays-Bas</country></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="1"><inist:fA14 i1="03"><s1>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Queensland Centre for Clinical Research, University of Queensland</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>4 aut.</sZ></inist:fA14><country>Australie</country></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="1"><inist:fA14 i1="05"><s1>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country></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"><inist:fA14 i1="06"><s1>Department of Clinical Genetics, St. Michael's Hospital</s1><s2>Bristol</s2><s3>GBR</s3><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Marcelis, Carlo" sort="Marcelis, Carlo" uniqKey="Marcelis C" first="Carlo" last="Marcelis">Carlo Marcelis</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation></author><author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Genetic Medicine, St Mary's Hospital, University of Manchester</s1><s2>Manchester</s2><s3>GBR</s3><sZ>8 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Kinning, Esther" sort="Kinning, Esther" uniqKey="Kinning E" first="Esther" last="Kinning">Esther Kinning</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital</s1><s2>Glasgow</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>SW Thames Regional Genetics Service, St George's NHS Trust</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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="1"><inist:fA14 i1="11"><s1>Academic Medical Center, Department of Pediatrics, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country></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="1"><inist:fA14 i1="12"><s1>Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country></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="1"><inist:fA14 i1="13"><s1>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>14 aut.</sZ></inist:fA14><country>Danemark</country></affiliation></author><author><name sortKey="Goodwin, Linda" sort="Goodwin, Linda" uniqKey="Goodwin L" first="Linda" last="Goodwin">Linda Goodwin</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Genetics, Nepean Hospital</s1><s2>Penrith</s2><s3>AUS</s3><sZ>15 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Megarbane" sort="Megarbane" uniqKey="Megarbane" last="Megarbane">MEGARBANE</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR-S910, Université Saint-Joseph</s1><s2>Beirut</s2><s3>LBN</s3><sZ>16 aut.</sZ></inist:fA14><country>Liban</country></affiliation></author><author><name sortKey="Lees, Melissa" sort="Lees, Melissa" uniqKey="Lees M" first="Melissa" last="Lees">Melissa Lees</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Clinical Genetics, Great Ormond Street Hospital for Children</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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="1"><inist:fA14 i1="17"><s1>Institute of Human Genetics, University of Bonn</s1><s2>Bonn</s2><s3>DEU</s3><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country></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="1"><inist:fA14 i1="18"><s1>Medical Genetics, School of Medicine, Coll Med Vet & Life Sci, University of Glasgow</s1><s2>Scotland</s2><s3>GBR</s3><sZ>19 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Coucke, Paul" sort="Coucke, Paul" uniqKey="Coucke P" first="Paul" last="Coucke">Paul Coucke</name><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Medical Genetics, University of Ghent</s1><s2>Ghent</s2><s3>BEL</s3><sZ>20 aut.</sZ></inist:fA14><country>Belgique</country></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"><inist:fA14 i1="20"><s1>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp</s1><s2>Edegem</s2><s3>BEL</s3><sZ>21 aut.</sZ></inist:fA14><country>Belgique</country></affiliation></author></analytic><series><title level="j" type="main">American journal of medical genetics. Part C, Seminars in medical genetics</title><title level="j" type="abbreviated">Am. j. med. genet., Part C Semin. med. genet.</title><idno type="ISSN">1552-4868</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of medical genetics. Part C, Seminars in medical genetics</title><title level="j" type="abbreviated">Am. j. med. genet., Part C Semin. med. genet.</title><idno type="ISSN">1552-4868</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Epiphyseal dysplasia</term><term>Growth</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dysplasie épiphysaire</term><term>Mutation</term><term>Croissance</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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1552-4868</s0></fA01><fA03 i2="1"><s0>Am. j. med. genet., Part C Semin. med. genet.</s0></fA03><fA05><s2>160</s2></fA05><fA06><s2>3</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Mutation-Based Growth Charts for SEDC and other COL2A1 Related Dysplasias</s1></fA08><fA09 i1="01" i2="1" l="ENG"><s1>New Topics in the Skeletal Dysplasias</s1></fA09><fA11 i1="01" i2="1"><s1>TERHAL (Paulien A.)</s1></fA11><fA11 i1="02" i2="1"><s1>VAN DOMMELEN (Paula)</s1></fA11><fA11 i1="03" i2="1"><s1>LE MERRER (Martine)</s1></fA11><fA11 i1="04" i2="1"><s1>ZANKL (Andreas)</s1></fA11><fA11 i1="05" i2="1"><s1>SIMON (Marleen E. H)</s1></fA11><fA11 i1="06" i2="1"><s1>SMITHSON (Sarah F.)</s1></fA11><fA11 i1="07" i2="1"><s1>MARCELIS (Carlo)</s1></fA11><fA11 i1="08" i2="1"><s1>KERR (Bronwyn)</s1></fA11><fA11 i1="09" i2="1"><s1>KINNING (Esther)</s1></fA11><fA11 i1="10" i2="1"><s1>MANSOUR (Sahar)</s1></fA11><fA11 i1="11" i2="1"><s1>HENNEKAM (Raoul C. M.)</s1></fA11><fA11 i1="12" i2="1"><s1>VAN DER HOUT (Annemarie H.)</s1></fA11><fA11 i1="13" i2="1"><s1>CORMIER-DAIRE (Valerie)</s1></fA11><fA11 i1="14" i2="1"><s1>LUND (Allan M.)</s1></fA11><fA11 i1="15" i2="1"><s1>GOODWIN (Linda)</s1></fA11><fA11 i1="16" i2="1"><s1>MEGARBANE</s1></fA11><fA11 i1="17" i2="1"><s1>LEES (Melissa)</s1></fA11><fA11 i1="18" i2="1"><s1>BETZ (Regina C.)</s1></fA11><fA11 i1="19" i2="1"><s1>TOBIAS (Edward S.)</s1></fA11><fA11 i1="20" i2="1"><s1>COUCKE (Paul)</s1></fA11><fA11 i1="21" i2="1"><s1>MORTIER (Geert R.)</s1></fA11><fA12 i1="01" i2="1"><s1>UNGER (Sheila)</s1><s9>ed.</s9></fA12><fA12 i1="02" i2="1"><s1>BONAFE (Luisa)</s1><s9>ed.</s9></fA12><fA12 i1="03" i2="1"><s1>SUPERTI-FURGA (Andrea)</s1><s9>ed.</s9></fA12><fA14 i1="01"><s1>Department of Biomedical Genetics, University Medical Centre Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Life Style, TNO</s1><s2>Leiden</s2><s3>NLD</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Genetics, INSERM U781, Paris Descartes University, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="04"><s1>University of Queensland Centre for Clinical Research, University of Queensland</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>4 aut.</sZ></fA14><fA14 i1="05"><s1>Erasmus Medical Center, Department of Clinical Genetics, University Medical Centre</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Clinical Genetics, St. Michael's Hospital</s1><s2>Bristol</s2><s3>GBR</s3><sZ>6 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>7 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Genetic Medicine, St Mary's Hospital, University of Manchester</s1><s2>Manchester</s2><s3>GBR</s3><sZ>8 aut.</sZ></fA14><fA14 i1="09"><s1>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital</s1><s2>Glasgow</s2><s3>GBR</s3><sZ>9 aut.</sZ></fA14><fA14 i1="10"><s1>SW Thames Regional Genetics Service, St George's NHS Trust</s1><s2>London</s2><s3>GBR</s3><sZ>10 aut.</sZ></fA14><fA14 i1="11"><s1>Academic Medical Center, Department of Pediatrics, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>11 aut.</sZ></fA14><fA14 i1="12"><s1>Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>12 aut.</sZ></fA14><fA14 i1="13"><s1>Centre for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>14 aut.</sZ></fA14><fA14 i1="14"><s1>Department of Genetics, Nepean Hospital</s1><s2>Penrith</s2><s3>AUS</s3><sZ>15 aut.</sZ></fA14><fA14 i1="15"><s1>Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR-S910, Université Saint-Joseph</s1><s2>Beirut</s2><s3>LBN</s3><sZ>16 aut.</sZ></fA14><fA14 i1="16"><s1>Department of Clinical Genetics, Great Ormond Street Hospital for Children</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></fA14><fA14 i1="17"><s1>Institute of Human Genetics, University of Bonn</s1><s2>Bonn</s2><s3>DEU</s3><sZ>18 aut.</sZ></fA14><fA14 i1="18"><s1>Medical Genetics, School of Medicine, Coll Med Vet & Life Sci, University of Glasgow</s1><s2>Scotland</s2><s3>GBR</s3><sZ>19 aut.</sZ></fA14><fA14 i1="19"><s1>Department of Medical Genetics, University of Ghent</s1><s2>Ghent</s2><s3>BEL</s3><sZ>20 aut.</sZ></fA14><fA14 i1="20"><s1>Department of Medical Genetics, Antwerp University Hospital, University of Antwerp</s1><s2>Edegem</s2><s3>BEL</s3><sZ>21 aut.</sZ></fA14><fA15 i1="01"><s1>Departments of Genetics and Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois (CHUV)</s1><s2>Lausanne</s2><s3>CHE</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></fA15><fA20><s1>205-216</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>17405C</s2><s5>354000506674510060</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>1/2 p.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0342842</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>American journal of medical genetics. Part C, Seminars in medical genetics</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B23</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dysplasie épiphysaire</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Epiphyseal dysplasia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Displasia epifisaria</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Croissance</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Growth</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Crecimiento</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie du système ostéoarticulaire</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0><s5>37</s5></fC07><fN21><s1>261</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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