Identification of a novel familial FGF16 mutation in two cases of MF4
نویسندگان
چکیده
Background Metacarpal 4-5 fusion (MF4) is a rare congenital hand malformation characterised primarily by ulnar deviation of the fifth finger, clinodactyly, shortening of the fifth metacarpal and reduced mobility of the fifth finger. A small number of familial cases have been described in the literature, consistent with X-linked recessive inheritance. In May 2013 causative mutations in the FGF16 gene were identified in two unrelated patients with MF4.[1] This prompted the sequencing of FGF16 in half-brothers with MF4, with a view to identifying a possibly causative mutation.
منابع مشابه
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
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 seq...
متن کاملFurther evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
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 p...
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