Abstract

Proximal symphalangism (SYM1) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints and fusion of carpal and tarsal bones. We identified and characterized two five‐generation Chinese families with SYM1. The two families share some similarities (e.g., osseous fusion of interphalangeal joints of the 2–4 fingers) with SYM1 families with mutations in the NOG gene or the family with mutation R438L recently reported in the GDF5 gene (encoding a bone morphogenetic protein family member). However, they show some unique features including the absence of cuboid bone, the lack of shortness of the first and fifth metacarpal bones, and manifestation of flat feet. Genome‐wide linkage analysis of the two families mapped the disease gene to marker D20S112 with a combined LOD score of 4.32. Mutational analysis revealed a novel E491K mutation in the GDF5 gene in …

Date

2006

Authors

Xu Wang, Fuying Xiao, Qinbo Yang, Bo Liang, Zhaohui Tang, Linbin Jiang, Qihui Zhu, Wei Chang, Jiuxi Jiang, Chuanming Jiang, Xiang Ren, Jing‐Yu Liu, Qing K Wang, Mugen Liu

Journal

American Journal of Medical Genetics Part A

Volume

140

Issue

17

Pages

1846-1853

Publisher

Wiley Subscription Services, Inc., A Wiley Company