1999
DOI: 10.1016/s0022-3476(99)70126-5
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Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

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Cited by 79 publications
(61 citation statements)
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“…6 Although a phenotypegenotype correlation has not yet been established, various mutations in the G4.5 (TAZ) gene have been found to cause Barth syndrome in different pedigrees. 4,5,7,8 In the present study, a novel mutation in exon 6 of the G4.5 (TAZ) gene was identified in a kindred with Barth syndrome.…”
Section: Introductionmentioning
confidence: 74%
See 1 more Smart Citation
“…6 Although a phenotypegenotype correlation has not yet been established, various mutations in the G4.5 (TAZ) gene have been found to cause Barth syndrome in different pedigrees. 4,5,7,8 In the present study, a novel mutation in exon 6 of the G4.5 (TAZ) gene was identified in a kindred with Barth syndrome.…”
Section: Introductionmentioning
confidence: 74%
“…Mutations in the exon 8, as well as many other mutations in the distal part of the G4.5 (TAZ) gene, have been associated with severe dilated cardiomyopathy. 7,8,16 Thus, the novel mutation identified in the G4.5…”
Section: Discussionmentioning
confidence: 97%
“…Respiratory chain abnormalities, reported in other patients with X-linked DCM (Barth et al, 1983(Barth et al, , 1996, were not found in our patients. Relating genotype to phenotype has been difficult previously (Cantlay et al, 1999;D'Adamo et al, 1997;Johnston et al, 1997) and remains difficult today.…”
Section: Discussionmentioning
confidence: 99%
“…lished missense mutations, 7 occur in these motifs. Mutations V183G and G197E have been found repeatedly (Bleyl et al, 1997;Cantlay et al, 1999;D'Adamo et al, 1997;Ichida et al, 2001;Johnston et al, 1997;Neuwald, 1997). The significant clustering of over one-half the reported disease-causing mutations in putative acyltransferase motifs (p Ͻ 0.022, 2 test) may reveal regions of the tafazzin protein critical for its function.…”
Section: Mutations In Gene G45mentioning
confidence: 99%
“…To our knowledge, only two other cases have been reported in Asian populations: one Japanese (Sakamoto et al 2001;Katsushima et al 2002) and one Vietnamese (Ichida et al 2001). However, Cantlay et al (1999) have questioned whether BTHS is underdiagnosed. We agree that pediatricians and pediatric cardiologists should consider performing metabolic investigations and/or genetic tests for patients with infantile cardiomyopathy.…”
Section: Resultsmentioning
confidence: 99%