@article{c30a1ad183e0489cbdc75d2905bb25f6,
title = "Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction",
abstract = "Mutations in the gene G4.5, originally associated with Barth syndrome, have been reported to result in a wide spectrum of severe infantile X-linked cardiomyopathies. The purpose of this study was to investigate patients with isolated left ventricular noncompaction (LVNC) for disease-causing mutations in G4.5. In 27 patients including 10 families with isolated LVNC, mutation analysis of G4.5 was performed using single-strand DNA conformation polymorphism (SSCP) analysis and DNA sequencing. A novel splice acceptor site mutation of intron 8 of G4.5 was identified in a family with severe infantile X-linked LVNC without the usual findings of Barth syndrome. This mutation results in deletion of exon 9 from the mRNA, and is predicted to significantly disrupt the protein product. Genotype-phenotype correlation of G4.5 mutations in all 38 cases reported in the literature to date revealed that there was no correlation between location or type of mutation and either cardiac phenotype or disease severity. We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5.",
keywords = "Barth syndrome, Dilated cardiomyopathy, G4.5, Infantile cardiomyopathy, Mutation analysis",
author = "Rui Chen and Tohru Tsuji and Fukiko Ichida and Bowles, {Karla R.} and Xianyi Yu and Sayaka Watanabe and Keiichi Hirono and Shinichi Tsubata and Yuji Hamamichi and Jun Ohta and Yasuharu Imai and Bowles, {Neil E.} and Toshio Miyawaki and Towbin, {Jeffrey A.} and Yasuo Ono and Teiji Akagi and Hiromichi Hamada and Takeshi Isobe and Shunji Kurotobi and Hiroshi Mito and Toshiharu Miyake and Yasuo Murakami and Takehiko Ishida and Noriyuki Haneda and Masataka Nii and Yasuhiko Tanaka and Tohru Matsushita and Hiroshi Sugiyama and Masaru Terai and Hitoshi Horigome and Yoshimi Hiraumi and Mitsuya Kudo and Tomotaka Nakayama and Teketoshi Hayakawa and Muneo Yoshibayashi and Tohru Hioka and Masaki Tsukashita and Koichi Nihei and Masaru Miura and Masao Nakagawa and Hikaru Doi and Hiroki Kajino and Hitoshi Moriuchi and Chikako Sakai",
note = "Funding Information: Noncompaction study collaborators: Yasuo Ono, Teiji Akagi, Hiromichi Hamada, Takeshi Isobe, Shunji Kurotobi, Hiroshi Mito, Toshiharu Miyake, Yasuo Murakami, Takehiko Ishida, Noriyuki Haneda, Masataka Nii, Yasuhiko Tanaka, Tohru Matsushita, Hiroshi Sugiyama, Masaru Terai, Hitoshi Horigome, Yoshimi Hiraumi, Mitsuya Kudo, Tomotaka Nakayama, Teketoshi Hayakawa, Muneo Yoshibayashi, Tohru Hioka, Masaki Tsukashita, Koichi Nihei, Masaru Miura, Masao Nakagawa, Hikaru Doi, Hiroki Kajino. The authors wish to acknowledge to Hitoshi Moriuchi, Chikako Sakai for their expert technical assistance. Fukiko Ichida is supported by grants from The Ministry of Education, Culture, Sports, Science and Technology in Japan (Grant-in-Aid for scientific Research 12670734). Jeffrey A. Towbin is supported by NTH P01 HL67155, Muscular Dystrophy Association, and the John Patrick Albright Foundation, and the Texas Children{\textquoteright}s Hospital Foundation Chair in Pediatric Cardiovascular Research.",
year = "2002",
doi = "10.1016/S1096-7192(02)00195-6",
language = "English",
volume = "77",
pages = "319--325",
journal = "Biochemical Medicine and Metabolic Biology",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "4",
}
