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A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndromeVesel, Samo ...Barth syndrome is an X-linked recessive disorder characterised by dilated cardiomyopathy and a variable expression of skeletal myopathy, short statue and neutropenia. Molecular genetic analysis is ... currently the most reliable diagnostic method. A kindred with a novel 535deIC mutation in the G4.5 (TAZ) gene responsible for Barth syndrome is presented. Beside the patient, the samemutation was detected in patient's mother and grandmother. In contrast to the so far reported patients with mutations in the same region of G4.5 (TAZ) gene, the patient described here has only a mild and transitory clinical presentation. This could be attributed to alternative splicing of G4.5 (TAZ) gene, since mRNA lacking exon 6 (with 535deIC mutation) was detected. Genetic analysis of the G4.5 (TAZ) gene was helpful for establishing the precise diagnosis of Barth syndrome and for adequate genetic counselling. Predicting the phenotype on the basis of mutations is unreliable especially if mutations are localised in alternatively spliced exons of the G4.5 (TAZ) gene which may result in a milder clinical presentation than expected.Source: EJHG. European journal of human genetics. - ISSN 1018-4813 (Letn. 11, 2003, str. 97-101)Type of material - article, component partPublish date - 2003Language - englishCOBISS.SI-ID - 16866521
Author
Vesel, Samo |
Stopar, Mirjam |
Trebušak Podkrajšek, Katarina |
Jazbec, Janez, 1962- |
Podnar, Tomaž |
Battelino, Tadej
Topics
Cardiomyopathy, Congestive |
Genetics |
Muscular Diseases |
Genetics |
Mutation |
Proteins |
Genetics |
X Chromosome |
Child |
Pedigree |
Polymerase Chain Reaction |
Alternative Splicing |
Exons |
Genes, Recessive |
Heterozygote |
Beljakovine |
Kardiomiopatija kongestivna |
Mišice, bolezni |
Mutacija |
X kromosom |
Alternativno spajanje |
Eksoni |
Geni recesivni |
Heterozigota |
Otrok |
Polimerazna, verižna reakcija |
Rodovnik
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Vesel, Samo | 30481 |
Stopar, Mirjam | 19252 |
Trebušak Podkrajšek, Katarina | 20253 |
Jazbec, Janez, 1962- | 10972 |
Podnar, Tomaž | 23760 |
Battelino, Tadej | 13023 |
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