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Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
- Source :
-
Molecular Genetics & Genomic Medicine . Sep2014, Vol. 2 Issue 5, p402-411. 10p. - Publication Year :
- 2014
-
Abstract
- Nonsense mutations in FGF16 have recently been linked to X-linked recessive hand malformations with fusion between the fourth and the fifth metacarpals and hypoplasia of the fifth digit ( MF4; MIM#309630). The purpose of this study was to perform careful clinical phenotyping and to define molecular mechanisms behind X-linked recessive MF4 in three unrelated families. We performed whole-exome sequencing, and identified three novel mutations in FGF16. The functional impact of FGF16 loss was further studied using morpholino-based suppression of fgf16 in zebrafish. In addition, clinical investigations revealed reduced penetrance and variable expressivity of the MF4 phenotype. Cardiac disorders, including myocardial infarction and atrial fibrillation followed the X-linked FGF16 mutated trait in one large family. Our findings establish that a mutation in exon 1, 2 or 3 of FGF16 results in X-linked recessive MF4 and expand the phenotypic spectrum of FGF16 mutations to include a possible correlation with heart disease. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 2
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Molecular Genetics & Genomic Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 97936988
- Full Text :
- https://doi.org/10.1002/mgg3.81