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

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-07, Vol.167A (7), p.1621-1626
Main Authors: Al-Qattan, Mohammad M., Al-Motairi, Muhammed I., Al Balwi, Mohammed A.
Format: Article
Language:English
Subjects:
Base Sequence
brachydactyly
Brachydactyly - diagnostic imaging
Brachydactyly - genetics
CDMP1
Fingers - diagnostic imaging
GDF5
Genotype
Growth Differentiation Factor 5 - genetics
Humans
Infant
Molecular Sequence Data
Mutation, Missense - genetics
Phenotype
Radiography
Saudi Arabia
Sequence Analysis, DNA
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Summary: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. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37040