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.