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

Fingerprint

Germ-Line Mutation
B-Cell Lymphoma
Lymphoma
Genes
Tumor Suppressor Genes
Non-Hodgkin's Lymphoma
B-Lymphocytes
Mutation
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3
Ectrodactyly-cleft lip-palate syndrome
Neoplasms
Proteins

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. / Akahoshi, Keiko; Sakazume, Satoru; Kosaki, Kenjiro; Ohashi, Hirofumi; Fukushima, Yoshimitsu.

In: American Journal of Medical Genetics, Vol. 120 A, No. 3, 30.07.2003, p. 370-373.

Research output: Contribution to journalArticle

Akahoshi, K, Sakazume, S, Kosaki, K, Ohashi, H & Fukushima, Y 2003, 'EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma', American Journal of Medical Genetics, vol. 120 A, no. 3, pp. 370-373.
Akahoshi, Keiko ; Sakazume, Satoru ; Kosaki, Kenjiro ; Ohashi, Hirofumi ; Fukushima, Yoshimitsu. / EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. In: American Journal of Medical Genetics. 2003 ; Vol. 120 A, No. 3. pp. 370-373.
@article{cd375e95e524486e8f9315c78f4fcd0d,
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.",
keywords = "Apoptosis, B-cell lymphoma, EEC syndrome, p63",
author = "Keiko Akahoshi and Satoru Sakazume and Kenjiro Kosaki and Hirofumi Ohashi and Yoshimitsu Fukushima",
year = "2003",
month = "7",
day = "30",
language = "English",
volume = "120 A",
pages = "370--373",
journal = "American Journal of Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

AU - Akahoshi, Keiko

AU - Sakazume, Satoru

AU - Kosaki, Kenjiro

AU - Ohashi, Hirofumi

AU - Fukushima, Yoshimitsu

PY - 2003/7/30

Y1 - 2003/7/30

N2 - 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.

AB - 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.

KW - Apoptosis

KW - B-cell lymphoma

KW - EEC syndrome

KW - p63

UR - http://www.scopus.com/inward/record.url?scp=0041823217&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0041823217&partnerID=8YFLogxK

M3 - Article

VL - 120 A

SP - 370

EP - 373

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4868

IS - 3

ER -