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EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma
Author(s) -
Akahoshi Keiko,
Sakazume Satoru,
Kosaki Kenjiro,
Ohashi Hirofumi,
Fukushima Yoshimitsu
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20064
Subject(s) - germline , lymphoma , germline mutation , cancer research , gene , biology , ectodermal dysplasia , tumor suppressor gene , mutation , genetics , medicine , immunology , carcinogenesis
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. © 2003 Wiley‐Liss, Inc.