Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

Citation
S. Belleh et al., Two novel fibrillin-2 mutations in congenital contractural arachnodactyly, AM J MED G, 92(1), 2000, pp. 7-12
Citations number
28
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
92
Issue
1
Year of publication
2000
Pages
7 - 12
Database
ISI
SICI code
0148-7299(20000501)92:1<7:TNFMIC>2.0.ZU;2-I
Abstract
Congenital contractural arachnodactyly (CCA) is an autosomal dominant conne ctive tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia, It is now known that mutations in the gene encoding fibrillin-2 cause CCA. Interestin gly, mutations described to date cluster in the fibrillin-2 region homologo us to the so-called neonatal Marfan syndrome region of fibrillin-1, Thus, i t has been hypothesized that the relative infrequency of CCA compared with the Marfan syndrome is due to the limited region of the gene targeted for m utations. In support of the above hypothesis, we report here the finding of two additional FBN2 mutations in CCA, C1141F (exon 26) and C1252W (exon 29 ). In addition, a new 3' UTR polymorphism is also described. Am. J, Med, Ge net, 92:7-12, 2000. (C) 2000 Wiley-Liss, Inc.