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EEC syndrome type 3 with a heterozygous germline mutation in theP63 gene and B cell lymphoma

✍ Scribed by Akahoshi, Keiko ;Sakazume, Satoru ;Kosaki, Kenjiro ;Ohashi, Hirofumi ;Fukushima, Yoshimitsu

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
180 KB
Volume
120A
Category
Article
ISSN
0148-7299

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✦ Synopsis

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. © 2003 Wiley‐Liss, Inc.

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