Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction

Autor: Yoshimichi Aoyagi, Fukiko Ichida, Hirokazu Kanegane, Rui Chen, Kisei Endo, Nobuo Momoi, Neil E. Bowles, Shinichi Tsubata, Taketoshi Yoshida, Xianyi Yu, Bo Chang, Lishen Shan, Toshio Miyawaki, Yanlin Xing, Sayaka Watanabe, Masaki Mitomo, Izumi Takeda
Rok vydání: 2010
Předmět:
Zdroj: Molecular genetics and metabolism. 100(2)
ISSN: 1096-7206
Popis: TAZ (G4.5) was initially identified as the gene associated with Barth syndrome and left ventricular noncompaction (LVNC). The purpose of this study was to investigate patients with LVNC for disease-causing mutations in TAZ. In 124 Japanese patients, including 50 families, mutation analysis of TAZ was performed using DNA sequencing. A splice donor mutation was identified in two brothers with Barth syndrome and LVNC, and a sister who was asymptomatic. However, the variant was not identified in either parent or the maternal grandparents, all of whom were asymptomatic. Due to the recurrent inheritance of this variant by each of the children we concluded that this was evidence of gonadal mosaicism in the obligate carrier mother, the first reported occurrence of this in Barth syndrome.
Databáze: OpenAIRE