Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement

Annals of Laboratory Medicine

Volumn 33, Issue 2, 2013, Pages 150-152

  Seo, Soo Hyun ^a   Park, Mi Jung ^b   Kim, Shin Hye ^b   Kim, Ok Hwa ^c   Park, Seungman ^a   Cho, Sung Im ^a   Park, Sung Sup ^a   Seong, Moon Woo ^a  

^a Seoul National University Hospital   (South Korea)

^b Inje University College of Medicine   (South Korea)

^c Ajou University Medical CentSuwon   (South Korea)

Author keywords

Brachydactyly; GDF5 gene; Mutational analysis

Indexed keywords

EID: 84876128765     PISSN: 22343806     EISSN: 22343814     Source Type: Journal    
DOI: 10.3343/alm.2013.33.2.150     Document Type: Article

References (11)

1. Temtamy SA and Aglan MS. Brachydactyly. Orphanet J Rare Dis 2008;3:15.
2. Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, et al. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet A 2004;124A:356-63.
3. Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, et al. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 2005;115:2373-81.
4. Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, et al. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A 2003;117A:136-42.
5. Baek GH, Chung MS, Park YB, Yoo KH. The relative incidence of congenital anomalies of the hand. J Korean Orthop Assoc 1997;32:796-801.
6. Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, et al. The mutational spectrum of brachydactyly type C. Am J Med Genet 2002;112:291-6.
7. Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet 1997;17:18-9.
8. Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, et al. Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations. J Med Genet 2004;41:e78.
9. Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, et al. Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. J Hum Genet 2008;53:368-74.
10. Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, et al. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet 2006;78:708-12.
11. Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, et al. Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum Mutat 2010;31:1155-62.