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

研究成果: Article査読

26 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)370-373
ページ数4
ジャーナルAmerican Journal of Medical Genetics
120 A
3
出版ステータスPublished - 2003 7月 30

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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