Article
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.
Journal of human genetics - 1 Apr 2017
Borna Nurun N, Kishita Yoshihito, Ishikawa Kaori, Nakada Kazuto, Hayashi Jun-Ichi, Tokuzawa Yoshimi, Kohda Masakazu, Nyuzuki Hiromi, Yamashita-Sugahara Yzumi, Nasu Takashi, Takeda Atsuhito, Murayama Kei, Ohtake Akira, Okazaki Yasushi
Abstract excerpt
Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. TAZ mutations are associated with Barth syndrome (BTHS). BTHS is an X-linked multisystemic disorder affecting usually male patients. Through sequence analysis of TAZ, we found one novel mutation c.39_60del p.(Pro14Alafs*19) by whole-exome sequencing and a...
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