EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

Keiko Akahoshi, Satoru Sakazume, Kenjiro Kosaki, Hirofumi Ohashi, Yoshimitsu Fukushima

Research output: Contribution to journalArticle

25 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)370-373
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number3
Publication statusPublished - 2003 Jul 30

Keywords

  • Apoptosis
  • B-cell lymphoma
  • EEC syndrome
  • p63

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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