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Terhal, Paulien A.; van Dommelen, Paula; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E.H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Kinning, Esther; Mansour, Sahar; Hennekam, Raoul C.M.; van der Hout, Annemarie H.; Cormier‐Daire, Valerie; Lund, Allan M.; Goodwin, Linda; Mégarbané, André; Lees, Melissa; Betz, Regina C.; Tobias, Edward S.; Coucke, Paul; Mortier, Geert R.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

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  • Media type: E-Article
  • Title: Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
  • Contributor: Terhal, Paulien A.; van Dommelen, Paula; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E.H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Kinning, Esther; Mansour, Sahar; Hennekam, Raoul C.M.; van der Hout, Annemarie H.; Cormier‐Daire, Valerie; Lund, Allan M.; Goodwin, Linda; Mégarbané, André; Lees, Melissa; Betz, Regina C.; Tobias, Edward S.; Coucke, Paul; Mortier, Geert R.
  • imprint: Wiley, 2012
  • Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
  • Language: English
  • DOI: 10.1002/ajmg.c.31332
  • ISSN: 1552-4876; 1552-4868
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats: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 <jats:italic>COL2A1</jats:italic> 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.</jats:p>