Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

Journal of Pediatrics

Volumn 135, Issue 3, 1999, Pages 311-315

  Cantlay, Ann M ^a   Shokrollahi, Kayvan ^a   Allen, John T ^a   Lunt, Peter W ^a   Newbury Ecob, Ruth A ^a   Steward, Colin G ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 ETHYLHYDRACRYLIC ACID; 3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; CREATININE; UNCLASSIFIED DRUG;

ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CHILD DEATH; CLINICAL ARTICLE; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; NEUTROPHIL; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0033504031     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70126-5     Document Type: Article

References (10)

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2. 2. Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991;119:738-47.
3. 3. Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, et al. Barth Syndrome: clinical observations and genetic linkage studies. Am J Hum Genet 1994;50:255-64.
4. 4. Bolhuis A, Hensels GW, Hulsebos TJM, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth Syndrome) to Xq28. Am J Hum Genet 1991;48:481-5.
5. 5. Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, et al. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 1993;45:327-34.
6. 6. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet 1996;12:385-9.
7. 7. D'Adamo P, Gedeon A, Janssen EAM, Bione S, Bolhuis PA, Barth PG, et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997;61: 862-7.
8. 8. Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, et al. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet 1997;61: 1053-8.
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10. 10. Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 1997;61:868-72.