Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

Rui Chen, Tohru Tsuji, Fukiko Ichida, Karla R. Bowles, Xianyi Yu, Sayaka Watanabe, Keiichi Hirono, Shinichi Tsubata, Yuji Hamamichi, Jun Ohta, Yasuharu Imai, Neil E. Bowles, Toshio Miyawaki, Jeffrey A. Towbin, Yasuo Ono, Teiji Akagi, Hiromichi Hamada, Takeshi Isobe, Shunji Kurotobi, Hiroshi MitoToshiharu 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, Hitoshi Moriuchi, Chikako Sakai

Research output: Contribution to journalArticlepeer-review

106 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)319-325
Number of pages7
JournalMolecular Genetics and Metabolism
Volume77
Issue number4
DOIs
Publication statusPublished - 2002
Externally publishedYes

Keywords

  • Barth syndrome
  • Dilated cardiomyopathy
  • G4.5
  • Infantile cardiomyopathy
  • Mutation analysis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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