title: A novel heterozygous point mutation in the p63 gene in a patient with ectodermal dysplasia associated with B-cell leukemia.
abstract: We report a 7-year-old boy with a past medical history of B-cell leukemia with dysmorphic features, including cleft palate, hypotrichosis with trichorrhexis nodosa, hypohidrosis, oligodontia, and ridging of nails. A heterozygous germline mutation, Ala111Thr, in the p63 gene was detected in the boy and in his mother, who had no clinical expression. This case emphasizes the spectrum of different phenotypical manifestations of mutations in the p63 gene and underlines the possible role of this gene as a tumor suppressor.
authors: Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
authors: Miguel
authors: M
authors: Cabanillas
authors: Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.
authors: Antonio
authors: A
authors: Torrelo
authors: Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
authors: Benigno
authors: B
authors: Monteagudo
authors: Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
authors: Oscar
authors: O
authors: Suárez-Amor
authors: Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
authors: Aquilina
authors: A
authors: Ramírez-Santos
authors: Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
authors: Daniel
authors: D
authors: González-Vilas
authors: Department of Dermatology, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain.
authors: Cristina
authors: C
authors: de Las Heras
mesh_terms: D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D015448:Leukemia, B-Cell / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins