title: Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
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.
authors.affiliation: Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Mohammad M
authors.initials: MM
authors.lastname: Al-Qattan
authors.affiliation: Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Muhammed I
authors.initials: MI
authors.lastname: Al-Motairi
authors.affiliation: Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Abdullah International Medical Research Center, Molecular Biology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud Bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia.
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Al Balwi
mesh_terms: D001483:Base Sequence; D059327:Brachydactyly / Q000000981:diagnostic imaging* / Q000235:genetics*; D005385:Fingers / Q000000981:diagnostic imaging; D005838:Genotype; D055428:Growth Differentiation Factor 5 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D012529:Saudi Arabia; D017422:Sequence Analysis, DNA
chemical_list: C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5
keywords: CDMP1; GDF5; brachydactyly