A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

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 an...

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Main Authors: Piranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, Valeria Romanelli, Jair Tenorio, Pablo Lapunzina
Format: Journal
Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/52303
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-523032018-09-04T09:35:07Z A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases Piranit Nik Kantaputra Rekwan Sittiwangkul Nuntigar Sonsuwan Valeria Romanelli Jair Tenorio Pablo Lapunzina Biochemistry, Genetics and Molecular Biology Medicine 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. 2018-09-04T09:23:18Z 2018-09-04T09:23:18Z 2013-01-01 Journal 15524833 15524825 2-s2.0-84871676091 10.1002/ajmg.a.35663 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84871676091&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/52303
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Piranit Nik Kantaputra
Rekwan Sittiwangkul
Nuntigar Sonsuwan
Valeria Romanelli
Jair Tenorio
Pablo Lapunzina
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
description 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.
format Journal
author Piranit Nik Kantaputra
Rekwan Sittiwangkul
Nuntigar Sonsuwan
Valeria Romanelli
Jair Tenorio
Pablo Lapunzina
author_facet Piranit Nik Kantaputra
Rekwan Sittiwangkul
Nuntigar Sonsuwan
Valeria Romanelli
Jair Tenorio
Pablo Lapunzina
author_sort Piranit Nik Kantaputra
title A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
title_short A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
title_full A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
title_fullStr A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
title_full_unstemmed A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
title_sort novel mutation in cdkn1c in sibs with beckwith-wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84871676091&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/52303
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