Lack of mutations of G4.5 in  three families from China with noncompaction of the ventricular myocardium.
To find  the underlying cause of noncompaction of the ventricular myocardium (NVM),  three Chinese families with probands who presented this problem were studied.  After the family members were evaluated by echocardiography, the gene G4.5 (taffazin)  was scanned by sequencing. Although X-linked inheritance could not be ruled  out, NVM were thought to have a vague rule of inheritance in our data from 8  patients and 28 family members. We also did not identify any mutations in G4.5 in all samples. Our data suggest that other genes are responsible for the  familial form of this disease.
Department of Gastroenterology, First Affiliated Hospital, Soochow University, Suzhou, China.
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Ye
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Yao
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Xu
D000217:Acyltransferases; D000368:Aged; D056889:Barth Syndrome / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics*; D002681:China; D015331:Cohort Studies; D000013:Congenital Abnormalities / Q000235:genetics*; D004452:Echocardiography / Q000379:methods; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human