Barth syndrome
From Wikipedia, the free encyclopedia
| Barth syndrome | |
| Classification and external resources | |
| ICD-9 | 759.89 |
|---|---|
| OMIM | 302060 |
| DiseasesDB | 29297 |
Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is a rare but serious X-linked genetic disorder. Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis),[1][2] neutropenia (chronic, cyclic, or intermittent),[2] underdeveloped skeletal musculature and muscle weakness,[3] growth delay,[2] exercise intolerance, cardiolipin abnormalities[4][5], and 3-methylglutaconic aciduria.[2] It has been documented in greater than 120 males to date (see Human Tafazzin (TAZ) Gene Mutation & Variation Database).[6] It is believed to be severely under-diagnosed[7] and may be estimated to occur in 1 out of approximately 300,000 births. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, and Australia.
The syndrome was named after Dr. Peter Barth (pediatric neurologist) in the Netherlands for his research and discovery in 1983.[3] He described a pedigree chart, showing that this is an inherited trait.
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[edit] Cause
Mutations in the tafazzin gene (TAZ, also called G4.5) are closely associated with Barth syndrome. The tafazzin gene product is believed to function as an acyltransferase in complex lipid metabolism.[4][5] In 2008, Dr. Kulik found that all the BTHS individuals that he tested had abnormalities in their cardiolipin molecules, a lipid found inside the mitochondria of cells.[8] Cardiolipin is intimately connected with the electron transport chain proteins and the membrane structure of the mitochondria which is the energy producing organelle of the cell. The human tafazzin gene, NG_009634, is listed as over 10,000 base pairs in length, and the full-length mRNA, NM_000116, is 1919 nucleotides long encoding 11 exons with a predicted protein length of 292 amino acids and a molecular weight of 33.5 kDa. The tafazzin gene is located at Xq28;[9] the long arm of the X chromosome. Mutations in tafazzin that cause Barth syndrome span many different categories: missense, nonsense, deletion, frameshift, splicing (see Human Tafazzin (TAZ) Gene Mutation & Variation Database).[6] To date, Barth syndrome is found exclusively in males.
[edit] Barth Syndrome Foundation
The Barth Syndrome Foundation (BSF), together with its affiliates, are the only world-wide volunteer organizations dedicated to saving lives through education, advances in treatment, and pursuit of a cure for Barth syndrome. The Barth Syndrome Foundation sponsors a competitive Research Grant Program and International Conferences for affected families, attending physicians, and scientists every two years.
[edit] See also
- 3-Methylglutaconic aciduria
- noncompaction cardiomyopathy: mutations to the affected genes in Barth syndrome are also present here.
[edit] References
- ^ Spencer CT, Bryant RM, Day J, et al. (August 2006). "Cardiac and clinical phenotype in Barth syndrome". Pediatrics 118 (2): e337–46. doi:. PMID 16847078.
- ^ a b c d Kelley RI, Cheatham JP, Clark BJ, et al. (November 1991). "X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria". The Journal of Pediatrics 119 (5): 738–47. doi:. PMID 1719174.
- ^ a b Barth PG, Scholte HR, Berden JA, et al. (December 1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes". Journal of the Neurological Sciences 62 (1-3): 327–55. doi:. PMID 6142097.
- ^ a b Schlame M, Kelley RI, Feigenbaum A, et al. (December 2003). "Phospholipid abnormalities in children with Barth syndrome". Journal of the American College of Cardiology 42 (11): 1994–9. doi:. PMID 14662265.
- ^ a b Vreken P, Valianpour F, Nijtmans LG, et al. (December 2000). "Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome". Biochemical and Biophysical Research Communications 279 (2): 378–82. doi:. PMID 11118295.
- ^ a b http://barthsyndrome.org/english/View.asp?x=1357
- ^ Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG (September 1999). "Genetic analysis of the G4.5 gene in families with suspected Barth syndrome". The Journal of Pediatrics 135 (3): 311–5. doi:. PMID 10484795.
- ^ Kulik W, van Lenthe H, Stet FS, et al. (February 2008). "Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome". Clinical Chemistry 54 (2): 371–8. doi:. PMID 18070816.
- ^ Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nature Genetics 12 (4): 385–9. doi:. PMID 8630491.
[edit] Additional References
- Yen TY, Hwu WL, Chien YH, et al. (August 2008). "Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review". European Journal of Pediatrics 167 (8): 941–4. doi:. PMID 17846786.
- Mangat J, Lunnon-Wood T, Rees P, Elliott M, Burch M (May 2007). "Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients". Pediatric Transplantation 11 (3): 327–31. doi:. PMID 17430492.
- Mazzocco MM, Henry AE, Kelly RI (February 2007). "Barth syndrome is associated with a cognitive phenotype". Journal of Developmental and Behavioral Pediatrics : JDBP 28 (1): 22–30. doi:. PMID 17353728.
- Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL (April 2007). "Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation". Fertility and Sterility 87 (4): 976.e5–7. doi:. PMID 17241629.
- Spencer CT, Byrne BJ, Gewitz MH, et al. (2005). "Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome". Pediatric Cardiology 26 (5): 632–7. doi:. PMID 16235007.
- Gonzalez IL (May 2005). "Barth syndrome: TAZ gene mutations, mRNAs, and evolution". American Journal of Medical Genetics. Part a 134 (4): 409–14. doi:. PMID 15793838.
- Kuijpers TW, Maianski NA, Tool AT, et al. (May 2004). "Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis". Blood 103 (10): 3915–23. doi:. PMID 14764526.
- Orstavik KH, Orstavik RE, Naumova AK, et al. (November 1998). "X chromosome inactivation in carriers of Barth syndrome". American Journal of Human Genetics 63 (5): 1457–63. doi:. PMID 9792874.
- Adwani SS, Whitehead BF, Rees PG, et al. (1997). "Heart transplantation for Barth syndrome". Pediatric Cardiology 18 (2): 143–5. doi:. PMID 9049131.
[edit] External links
- Barth Syndrome Foundation http://www.barthsyndrome.org/
- Clinical Mass Spectrometry Laboratory - Kennedy Krieger Institute http://www.hopkinsmedicine.org/cmsl/Barth_Syndrome.html
- National Institute of Neurological Disorders and Stroke (NINDS) http://www.ninds.nih.gov/disorders/barth/barth.htm
- National Organization for Rare Disorders (NORD) http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome
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