A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: Creation of a 5′ splice donor site with variant GC consensus and elongation of the upstream exon

Human Genetics

Volumn 109, Issue 5, 2001, Pages 559-563

  Sakamoto, O ^a   Ohura, T ^a   Katsushima, Y ^a   Fujiwara, I ^a   Ogawa, E ^a   Miyabayashi, S ^a   Iinuma, K ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; DNA; HYDRACRYLIC ACID DERIVATIVE; RNA;

5' UNTRANSLATED REGION; ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CASE REPORT; DEATH; DNA CLEAVAGE; DNA SEQUENCE; DONOR SITE; ELECTROCARDIOGRAPHY; EXON; FEEDING DISORDER; FOLLOW UP; GAS CHROMATOGRAPHY; GC RICH SEQUENCE; GENE INSERTION; GENE MUTATION; GENETIC DISORDER; GENOME; HEART EJECTION FRACTION; HUMAN; HUMAN CELL; INFANTILE HYPOTONIA; INTRON; LEUKOCYTE COUNT; MALE; MASS SPECTROMETRY; MOTOR RETARDATION; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; ST SEGMENT DEPRESSION; URINARY EXCRETION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ANIMALS; BASE SEQUENCE; COS CELLS; DNA PRIMERS; DNA-BINDING PROTEINS; EXONS; HUMANS; INTRONS; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0035186020     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0612-3     Document Type: Article

References (19)

1. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes
2. A novel X-linked gene, G4.5, is responsible for Barth syndrome
3. Analysis of canonical and non-canonical splice sites in mammalian genomes
4. SpliceDB: Database of canonical and non-canonical mammalian splice sites
5. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
6. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
7. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
8. Molecular analysis of dihydropteridine reductase deficiency: Identification of two novel mutations in Japanese patients
9. A reappraisal of non-consensus mRNA splice sites
10. Mutation characterization and genotype-phenotype correlation in Barth syndrome
11. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan
12. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
13. Molecular analysis of glycogen storage disease type Ib: Identification of a prevalent mutation among Japanese patients and assignment of putative glucose-6-phosphate translocase gene to chromosome 11
14. Construction of a novel database containing aberrant splicing mutations of mammalian genes
15. Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene
16. Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency
17. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome
18. RNA splice junctions of different classes of eukaryotes: Sequence statics and functional implications in gene expression
19. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes