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Am J Med Genet A. 2015 Jul;167(7):1621-6. doi: 10.1002/ajmg.a.37040. Epub 2015 Mar 28.

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

Author information

1
Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
2
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
3
King Abdullah International Medical Research Center, Molecular Biology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
4
King Saud Bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia.

Abstract

Mutations of the GDF5 gene cause a variable phenotype including brachydactyly type C. A review of the literature showed that it is caused either by heterozygous frameshift mutations within the prodomain or heterozygous missense/nonsense mutations within the active domain. Only a single patient with a homozygous mutation (c.517A > G, which predicts p. Met173Val) has been reported in this disorder. In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c.608C > A, which predicts p.Thr203Asn) and the other was within the region coding for the active domain (c.1456 G > A, which predicts p.Val486Met). The genotype-phenotype correlations in the mutational spectrum of the GDF5 gene are discussed.

KEYWORDS:

CDMP1; GDF5; brachydactyly

PMID:
25820810
DOI:
10.1002/ajmg.a.37040
[Indexed for MEDLINE]

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