A Novel Heterozygous Point Mutation in the p63 Gene in a Patient with Ectodermal Dysplasia Associated with B‐Cell Leukemia

• Published in: Pediatric dermatology Vol. 28; no. 6; pp. 707 - 710
• Main Authors: Cabanillas, Miguel, Torrelo, Antonio, Monteagudo, Benigno, Suárez‐Amor, Oscar, Ramírez‐Santos, Aquilina, González‐Vilas, Daniel, de las Heras, Cristina
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-11-2011; Wiley; Wiley Subscription Services, Inc
• Subjects: Adult; Biological and medical sciences; Child; Cleft Lip - genetics; Cleft lip/palate; Cleft Palate - genetics; Dermatology; Dysplasia; Ectodermal Dysplasia - genetics; Female; Germ-Line Mutation; Hair and nails disorders; Hematologic and hematopoietic diseases; Heterozygote; Humans; Leukemia; Leukemia, B-Cell - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Lymphocytes B; Male; Medical sciences; Mutation; Nails; p63 protein; Pediatrics; Point Mutation; Skin involvement in other diseases. Miscellaneous. General aspects; Transcription Factors - genetics; Tumor suppressor genes; Tumor Suppressor Proteins - genetics; Human; Hair; Pediatrics; Skin disease; Dermatology; Leukemia; Malignant hemopathy; Congenital disease; Ectodermal dysplasia; Point mutation; β Cell; Cancer; Sweat gland disease
• ISSN: 0736-8046; 1525-1470
• DOI: 10.1111/j.1525-1470.2011.01474.x

:  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.