Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
A 6-yr-old girl presenting with shortening of the second and third digits on both hands was admitted for evaluation. She had normal stature and development compared to the general Korean standards. She had normal prenatal and birth history as well as no family history of shortened digits. Hand examination revealed that the first, second, and third digits were short. The fourth digit was the longest and appeared normal. The distal phalanx of the left second digit was deviated to the ulnar side and that of the left third digit was deviated to the radial side. Mild clinodactyly was present in the fifth digit of both hands. Range of motion of individual joints was normal and her feet were unaffected. She had no other skeletal or non-skeletal dysmorphisms. Radiographs showed shortening of the thumb metacarpals and middle phalanges of the second, third, and fifth digits ().\nInformed consent was obtained and whole blood was collected from the patient in EDTA blood collection tubes. DNA was extracted and PCR was performed using primers specific for 2 coding exons (data not shown). The amplified products were sequenced on an ABI 3730 analyzer (Applied Biosystems, Foster City, CA, USA) using a BigDye Terminator v3.1 Cycle sequencing kit (Applied Biosystems,) (Reference cDNA sequence: NM_000557.2). Sequence analysis of GDF5 revealed a missense mutation at c.1312C>T that resulted in a change in the protein level of p.Arg438Cys (). Mutation analysis and clinical review of this patient were approved by the institutional review board of Inje University, Sanggye Paik Hospital.