How to Cite this Article: Kantaputra PN, Sittiwangkul R, Sonsuwan N, Romanelli V, Tenorio J, Lapunzina P. 2012. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am J Med Genet Part A 161A:192–197.
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Clinical Report
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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†‡
Article first published online: 29 NOV 2012
DOI: 10.1002/ajmg.a.35663
Copyright © 2012 Wiley Periodicals, Inc.
Additional Information
How to Cite
Kantaputra, P. N., Sittiwangkul, R., Sonsuwan, N., Romanelli, V., Tenorio, J. and Lapunzina, P. (2013), A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am. J. Med. Genet., 161: 192–197. doi: 10.1002/ajmg.a.35663
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- ‡
Conflict of interest: none to delcare.
Publication History
- Issue published online: 22 DEC 2012
- Article first published online: 29 NOV 2012
- Manuscript Accepted: 24 AUG 2012
- Manuscript Received: 15 MAR 2012
Funded by
- Thailand Research Fund
- Faculty of Dentistry, Chiang Mai ISCIII-FIS 11/2491 (PL)
Keywords:
- anterior open bite;
- cryptorchidism;
- hearing loss;
- p57kip2;
- posterior crossbite;
- macroglossia
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.