Terhal, P.A. et al. (2012) Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160C(3), pp. 205-216. (doi: 10.1002/ajmg.c.31332)
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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.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Tobias, Professor Edward |
| Authors: | Terhal, P.A., van Dommelen, P., Le Merrer, M., Zankl, A., Simon, M.E.H., Smithson, S.F., Marcelis, C., Kerr, B., Kinning, E., Mansour, S., Hennekam, R.C.M., van der Hout, A.H., Cormier-Daire, V., Lund, A.M., Goodwin, L., Mégarbané, A., Lees, M., Betz, R.C., Tobias, E.S., Coucke, P., and Mortier, G.R. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities |
| Journal Name: | American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
| ISSN: | 1552-4868 |
| ISSN (Online): | 1552-4876 |
| Published Online: | 12 July 2012 |
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