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 A
; 161A(1): 192-7, 2013 Jan.
Article
en En
| MEDLINE
| ID: mdl-23197429
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Beckwith-Wiedemann
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Fisura del Paladar
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Inhibidor p57 de las Quinasas Dependientes de la Ciclina
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Pérdida Auditiva Sensorineural
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Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Año:
2013
Tipo del documento:
Article