Journal
MOLECULAR GENETICS & GENOMIC MEDICINE
Volume 2, Issue 5, Pages 402-411Publisher
WILEY
DOI: 10.1002/mgg3.81
Keywords
FGF16; heart; metacarpal fusion; MF4
Categories
Funding
- Swedish Research Council
- Kronprinsessan Lovisa
- Sallskapet Barnavard
- Stiftelsen Samariten
- Stockholm City Council research and development funds
- Folkhalsan Research Foundation, Helsinki, Finland
- Karolinska Institutet
- SNIC through Uppsala Multidisciplinary Center for Advanced Computational Science (UPPMAX) [b2011157]
- National Institute of Child Health and Human Development [R01HD059862]
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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.
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