Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

Susan Belleh, Guimei Zhou, Mei Wang, Vazken M. Der Kaloustian, Roberta A. Pagon, Maurice Godfrey

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

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. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)7-12
Number of pages6
JournalAmerican journal of medical genetics
Volume92
Issue number1
DOIs
StatePublished - May 1 2000

Keywords

  • Beal's syndrome
  • Congenital contractural arachnodactyly
  • Fibrillin-2
  • Mutation
  • Polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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