| Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. | |
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MedLine Citation:
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PMID: 20303308 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Bo Chang; Nobuo Momoi; Lishen Shan; Masaki Mitomo; Yoshimichi Aoyagi; Kisei Endo; Izumi Takeda; Rui Chen; Yanlin Xing; Xianyi Yu; Sayaka Watanabe; Taketoshi Yoshida; Hirokazu Kanegane; Shinichi Tsubata; Neil E Bowles; Fukiko Ichida; Toshio Miyawaki; |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-02 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 100 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-17 Completed Date: 2010-08-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 198-203 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Toyama University, Sugitani, Toyama, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Asian Continental Ancestry Group
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genetics Barth Syndrome / genetics* Fatal Outcome Female Gonadal Dysgenesis / genetics Humans Infant Isolated Noncompaction of the Ventricular Myocardium / genetics* Male Mosaicism* Mutation Pedigree Transcription Factors / genetics* |
| Chemical | |
Reg. No./Substance:
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0/TAZ protein, human; 0/Transcription Factors |
| Investigator | |
Investigator/Affiliation:
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Tadaro Abe / ; Teiji Akagi / ; Yo Arita / ; Hikaru Doi / ; Shigeki Futaba / ; Yutaka Fukuda / ; Norihide Fukushima / ; Michiko Furutani / ; Hiromichi Hamada / ; Akiko Hamaoka / ; Noriyuki Haneda / ; Taketoshi Hayakawa / ; Tamaki Hayashi / ; Takashi Higaki / ; Tohru Hioka / ; Yoshimi Hiraumi / ; Hitoshi Horigome / ; Takehiro Igarashi / ; Takara Matsumori / ; Noburu Inamura / ; Yumiko Ikemoto / ; Takehiko Ishida / ; Astuko Ishihara / ; Shiro Ishikawa / ; Takamitsu Ishikawa / ; Takeshi Isobe / ; Satoru Iwashima / ; Hiromi Katayama / ; Shinji Kaichi / ; Hiroki Kajino / ; Kazuki Kawano / ; Kyoko Koda / ; Takeshi Kondo / ; Kohtaro Koyama / ; Tohru Kubo / ; Mitsuya Kudo / ; Shunji Kurotobi / ; Atsushi Kuwabara / ; Kyoko Sekiguchi / ; Naomasa Makita / ; Tohru Matsushita / ; Taro Matsuoka / ; Rumiko Matsuoka / ; Hiroyuki Matsuura / ; Hiroshi Mito / ; Toshihiro Mitomori / ; Masaru Miura / ; Toshiharu Miyake / ; Kazuhiro Mori / ; Yasuhiro Morikami / ; Yasuo Murakami / ; Masao Nakagawa / ; Koji Nakamura / ; Tomotaka Nakayama / ; Masaki Nii / ; Koichi Nihei / ; Yuichi Nomura / ; Junichi Ohata / ; Yoko Okada / ; Shin Ono / ; Hiroo Ooki / ; Norio Sakai / ; Shingo Sakamoto / ; Kayoko Saito / ; Kyoko Sekiguchi / ; Hirohiko Shiraishi / ; Hiroshi Sugiyama / ; Shinsuke Suzuki / ; Ken Takagi / ; Mitsuo Takeda / ; Satoshi Takenaka / ; Masamichi Tamura / ; Manabu Tanabe / ; Yasuhiko Tanaka / ; Hirokazu Taniguchi / ; Masaru Terai / ; Kazuhiro Terano / ; Mika Tokuyama / ; Hideshi Tomita / ; Tohru Tsuji / ; Masaki Tsukashita / ; Takara Tsumori / ; Takashi Urashima / ; Yasunobu Wakabayashi / ; Masaki Yamamoto / ; Kenji Yasuda / ; Jun Yoshimoto / ; Muneo Yoshibayashi / ; Hiroyuki Yoshizawa / |
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