J Pediatr. 1999 Sep;135(3):311-5.

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

Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG.

Source

Department of Pathology and Microbiology, Bristol University, Southmead Hospital, Bristol, UK.

Erratum in

J Pediatr 2000 Jun;136(1):136.

Abstract

Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the cardinal features of this syndrome, and mutations of G4.5 were found in each case. A mutation was also found in a fifth family with an extensive history of early infant death from heart disease. The recognition of 5 unrelated families in 1 hospital during a 7-year period suggests that this disease may be underdiagnosed.

Comment in

J Pediatr. 1999 Sep;135(3):273-6.

PMID:: 10484795; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Related citations

Review X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. [J Pediatr. 1999]
Review X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.
Barth PG, Wanders RJ, Vreken P. J Pediatr. 1999 Sep; 135(3):273-6.
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. [J Hum Genet. 2002]
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K. J Hum Genet. 2002; 47(5):229-31.
Mutation characterization and genotype-phenotype correlation in Barth syndrome. [Am J Hum Genet. 1997]
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. Am J Hum Genet. 1997 Nov; 61(5):1053-8.
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. [J Med Genet. 1995]
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC. J Med Genet. 1995 May; 32(5):383-8.
Review X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). [J Inherit Metab Dis. 1999]
Review X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).
Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. J Inherit Metab Dis. 1999 Jun; 22(4):555-67.

See reviews... See all...

Cited by 3 PubMed Central articles

The 3-methylglutaconic acidurias: what's new? [J Inherit Metab Dis. 2012]
The 3-methylglutaconic acidurias: what's new?
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. J Inherit Metab Dis. 2012 Jan; 35(1):13-22. Epub 2010 Sep 30.
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. [Prenat Diagn. 2010]
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, et al. Prenat Diagn. 2010 Oct; 30(10):970-6.
Barth syndrome is associated with a cognitive phenotype. [J Dev Behav Pediatr. 2007]
Barth syndrome is associated with a cognitive phenotype.
Mazzocco MM, Henry AE, Kelly RI. J Dev Behav Pediatr. 2007 Feb; 28(1):22-30.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
J Pediatr. 1999 Sep ;135(3):311-5.

PubMed
Barth syndrome: TAZ gene mutations, mRNAs, and evolution.
Barth syndrome: TAZ gene mutations, mRNAs, and evolution.
Am J Med Genet A. 2005 May 1 ;134(4):409-14.

PubMed
Heart transplantation for Barth syndrome.
Heart transplantation for Barth syndrome.
Pediatr Cardiol. 1997 Mar-Apr ;18(2):143-5.

PubMed
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and ...
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.
J Neurol Sci. 1983 Dec ;62(1-3):327-55.

PubMed
X chromosome inactivation in carriers of Barth syndrome.
X chromosome inactivation in carriers of Barth syndrome.
Am J Hum Genet. 1998 Nov ;63(5):1457-63.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to:

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

Source

Erratum in

Abstract

Comment in

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Related citations

Cited by 3 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information