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Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

โœ Scribed by Belleh, Susan; Zhou, Guimei; Wang, Mei; Der Kaloustian, Vazken M.; Pagon, Roberta A.; Godfrey, Maurice

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
32 KB
Volume
92
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective 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. Interestingly, mutations described to date cluster in the fibrillin-2 region homologous to the so-called neonatal Marfan syndrome region of fibrillin-1. Thus, it 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 mutations. 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.

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## Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition phenotypically related to Marfan syndrome (MFS). CCA is caused by mutations in FBN2, whereas MFS results from mutations in FBN1. FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutati