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

作者：Cabanillas Miguel^*; Torrelo Antonio; Monteagudo Benigno; Suarez Amor Oscar; Ramirez Santos Aquilina; Gonzalez Vilas Daniel; de las Heras Cristina

来源：Pediatric Dermatology, 2011, 28(6): 707-710.

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.

• 出版日期2011-12