A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

ABSTRACT:

Background

Brachydactyly type A2 (OMIM 112600) is characterised by hypoplasia/aplasia of the second middle phalanx of the index finger and sometimes the little finger. BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families.

Methods

We found and reviewed Mohr and Wriedt's original unpublished annotations, updated the family pedigree, and examined 37 family members clinically, and radiologically by constructing the metacarpo-phalangeal profile (MCPP) pattern in nine affected subjects. Molecular analyses included sequencing of BMPR1B, linkage analysis for STS markers flanking GDF5, sequencing of GDF5, confirmation of the mutation by a restriction enzyme assay, and localisation o

SUBMITTER: Kjaer KW 

PROVIDER: S-EPMC2563247 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature