Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Détails

ID Serval
serval:BIB_F1A003D5A500
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Kim O.H., Park H., Seong M.W., Cho T.J., Nishimura G., Superti-Furga A., Unger S., Ikegawa S., Choi I.H., Song H.R., Kim H.W., Yoo W.J., Shim J.S., Chung C.Y., Oh C.W., Jeong C., Song K.S., Seo S.G., Cho S.I., Yeo I.K., Kim S.Y., Park S., Park S.S.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2011
Volume
155A
Numéro
11
Pages
2669-2680
Langue
anglais
Résumé
Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. The purpose of this study was to investigate the frequency of mutations in individuals with a clinical and radiographic diagnosis of MED and to test the hypothesis that characteristic radiological findings may be helpful in predicting the gene responsible. The radiographs of 74 Korean patients were evaluated by a panel of skeletal dysplasia experts. Six genes known to be associated with MED (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) were screened by sequencing. Mutations were found in 55 of the 63 patients (87%). MATN3 mutations were found in 30 patients (55%), followed by COMP mutations in 23 (41%), and COL9A2 and DTDST mutations in one patient (2%) each. Comparisons of radiographic findings in patients with COMP and MATN3 mutations showed that albeit marked abnormalities in hip and knee joints were observed in both groups, the degree of involvement and the morphology of dysplastic epiphyses differed markedly. The contour of the pelvic acetabulum, the presence of metaphyseal vertical striations, and/or the brachydactyly of the hand were also found to be highly correlated with the genotypes. The study confirms that MATN3 and COMP are the genes most frequently responsible for MED and that subtle radiographic signs may give precious indications on which gene(s) should be prioritized for mutational screening in a given individual.
Pubmed
Web of science
Création de la notice
22/12/2011 11:32
Dernière modification de la notice
03/03/2018 22:38
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