title: A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.
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.
authors.affiliation: Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand. dentaland17@gmail.com
authors.forename: Piranit Nik
authors.initials: PN
authors.lastname: Kantaputra
authors.forename: Rekwan
authors.initials: R
authors.lastname: Sittiwangkul
authors.forename: Nuntigar
authors.initials: N
authors.lastname: Sonsuwan
authors.forename: Valeria
authors.initials: V
authors.lastname: Romanelli
authors.forename: Jair
authors.initials: J
authors.lastname: Tenorio
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006554:Hernia, Umbilical / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D020935:MAP Kinase Signaling System; D008260:Macroglossia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D009154:Mutation; D010766:Phosphorylation
chemical_list: C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57