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 |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Fatal outcome Endocrinology Diabetes and Metabolism Germline mosaicism Biology medicine.disease_cause Gonadal Dysgenesis Biochemistry Asymptomatic Endocrinology Fatal Outcome Asian People Obligate carrier Genetics medicine Humans Molecular Biology Mutation Isolated Noncompaction of the Ventricular Myocardium Mosaicism Infant Barth syndrome medicine.disease Pedigree Barth Syndrome Mutation testing Left ventricular noncompaction Female medicine.symptom Acyltransferases Transcription Factors |
| 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 |
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