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A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
Author(s) -
Kantaputra Piranit Nik,
Sittiwangkul Rekwan,
Sonsuwan Nuntigar,
Romanelli Valeria,
Tenorio Jair,
Lapunzina Pablo
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35663
Subject(s) - medicine , macroglossia , sensorineural hearing loss , supernumerary , daughter , hearing loss , omphalocele , anatomy , genetics , audiology , biology , pathology , tongue , pregnancy , fetus , evolutionary biology
Abstract We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion creases of the fingers. A novel mutation in CDKN1C (c.579delT; p.A193AfsX46) was found in all affected individuals and their mother. This mutation is located in the central highly polymorphic hexanucleotide repeat encoding a proline‐alanine series of repeats (PAPA‐domain). This domain is involved in MAP kinase phosphorylation. This is for the first time that sensorineural hearing loss and supernumerary flexion creases of the fingers are associated with mutation in CDKN1C . © 2012 Wiley Periodicals, Inc.