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  Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Jamsheer, A., Smigiel, R., Jakubiak, A., Zemojtel, T., Socha, M., Robinson, P. N., et al. (2014). Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Research Part A: Clinical and Molecular Teratology, 100(4), 314-318. doi:10.1002/bdra.23239.

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© 2014 John Wiley & Sons, Inc.
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Jamsheer, A., Author
Smigiel, R., Author
Jakubiak, A., Author
Zemojtel, T., Author
Socha, M., Author
Robinson, P. N., Author
Mundlos, S.1, Author           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Adult Exons/genetics Female Fibroblast Growth Factors/*genetics *Genes, Recessive *Genes, X-Linked Genetic Diseases, X-Linked/*genetics/pathology Hand Deformities, Congenital/*genetics/pathology Humans *INDEL Mutation Male Metacarpal Bones/*abnormalities/pathology
 Abstract: BACKGROUND: Metacarpal 4-5 fusion (MF4; MIM#309630) is a rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a genetic syndrome. Recently, we have identified FGF16 nonsense mutations as the underlying cause of isolated X-linked recessive MF4. METHODS: In this report, we provide a detailed clinical description of a sporadic male patient showing MF4 in whom we performed Sanger sequencing of the entire coding sequence of FGF16. RESULTS: In addition to MF4 symptoms, the patient presented with generalized joint laxity and hypermobility. FGF16 sequencing detected a novel truncating mutation (c.474_477del; p.E158DfsX25) in exon 3 of the gene. A heterozygous mutation was found in a clinically and radiologically unaffected mother of the proband. CONCLUSION: Our finding confirms that truncating mutations of FGF16 are causative for X-linked recessive metacarpal 4-5 fusion. Importantly, the mutation detected in this study was located in last exon of the gene (exon 3), like the only two FGF16 disease-causing variants identified to date. Thus, all FGF16 mutations known to give rise to this rare skeletal hand malformation are C-terminal and most probably do not result in a nonsense mediated decay. Additionally, our proband showed mild symptoms of a connective tissue disorder, as some other patients previously reported to have X-linked MF4. Therefore, we suggest that impaired FGF16 function may also be responsible for connective tissue symptoms in MF4 patients.

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Language(s): eng - English
 Dates: 2014-04-072014-04
 Publication Status: Issued
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 Rev. Type: Peer
 Identifiers: DOI: 10.1002/bdra.23239
ISSN: 1542-0760 (Electronic)1542-0752 (Print)
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Title: Birth Defects Research Part A : Clinical and Molecular Teratology
Source Genre: Journal
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Publ. Info: John Wiley & Sons, Inc.
Pages: - Volume / Issue: 100 (4) Sequence Number: - Start / End Page: 314 - 318 Identifier: -