title: EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.
abstract: Lines of evidence have recently indicated a relationship between mutations in the P63 gene and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome type 3 (EEC3). The p63 gene (P63) has homology to P53 known as a tumor-suppressor gene, but biological function of its protein has not yet been known well. There have been two reported patients who had EEC syndrome associated with malignant lymphoma. However, they did not undergo sequencing analysis of P63. Here, we present with a Japanese girl who had EEC3 and developed diffuse large B-cell type non-Hodgkin lymphoma. In this patient, we documented a heterozygous germline mutation, Asp312Gly, in P63. We speculated that p63 may exert a biological function as a tumor suppressor. Malignant lymphoma should be considered as an important complication of EEC3.
authors.affiliation: Department of Medical Genetics, Shimada Ryoiku Center, Tokyo, Japan. fwkt4124@mb.infoweb.ne.jp
authors.forename: Keiko
authors.initials: K
authors.lastname: Akahoshi
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
mesh_terms: D000293:Adolescent; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D016147:Genes, Tumor Suppressor; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008198:Lymph Nodes / Q000473:pathology; D016393:Lymphoma, B-Cell / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins