Barth syndrome

Barth syndrome

Infobox_Disease
Name = Barth syndrome


Caption =
DiseasesDB = 29297
ICD10 =
ICD9 = ICD9|759.89
ICDO =
OMIM = 302060
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It has been documented in greater than 30 males to datecite journal |author=Spencer, C. T., Bryant, R. M., Day, J., Gonzalez, I. L., Colan, S. D., Thompson, W. R., "et al" |title=Cardiac and Clinical Phenotype in Barth Syndrome |journal=Pediatrics |volume=118 |issue=2 |pages=e337–346 |year=2006 |month=August |pmid=16847078 |doi= 10.1542/peds.2005-2667|url=http://pediatrics.aappublications.org/cgi/content/abstract/118/2/e337 ] [ [http://www.foxnews.com/story/0,2933,358952,00.html FOXNews.com - Teen Survives Five Heart Attacks, Is in Race Against Time - Health News | Current Health News | Medical News ] ] . Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, Australia. The syndrome is believed to be severely under-diagnosed and may be estimated to occur in 1 out of approximately 200,000 births.

The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery in 1983.cite journal |author=Barth PG, Scholte HR, Berden JA, "et al" |title=An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes |journal=J. Neurol. Sci. |volume=62 |issue=1-3 |pages=327–55 |year=1983 |month=December |pmid=6142097 |doi= |url=] He described a pedigree chart, showing that this is an inherited trait.

Cause

Mutations in the "BTHS" gene, tafazzin (TAZ), are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28;cite journal |author=Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D |title=A novel X-linked gene, G4.5. is responsible for Barth syndrome |journal=Nat. Genet. |volume=12 |issue=4 |pages=385–9 |year=1996 |month=April |pmid=8630491 |doi=10.1038/ng0496-385] the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge. Barth syndrome is found exclusively in males.

Barth Syndrome Foundation

The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is presently in the planning stages for summer of 2008. For more information contact the Barth Syndrome Foundation, Inc. at [http://www.barthsyndrome.org http://www.barthsyndrome.org] .

ee also

*3-Methylglutaconic aciduria
*noncompaction cardiomyopathy: mutations to the affected genes in Barth syndrome are also present here.

References

External links

* [http://www.barthsyndrome.org/ http://www.barthsyndrome.org/] Barth Syndrome Foundation, headed by Shelley Bowen
* [http://www.ninds.nih.gov/disorders/barth/barth.htm NINDS]
* [http://www.csun.edu/~hcbio033/barth.html http://www.csun.edu/~hcbio033/barth.html]
* [http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html]
* [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome]


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Barth syndrome — Barth syndrome. См. синдром Барта. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Barth syndrome — an X linked disorder caused by mutation in the TAZ gene (locus: q28), which encodes a protein of unknown function that is highly expressed in cardiac and skeletal muscle, characterized by dilated cardiomyopathy, hypotonia, neutropenia, and growth …   Medical dictionary

  • Barth — [bart] (english beard ) can mean:People*Edgar Barth (1917 1965), a German race car driver *Fredrik Barth (1928 ), a Norwegian anthropologist *Heinrich Barth (1821 1865), a German explorer *Heinz Barth (1920 2007), Waffen SS leader *John Barth… …   Wikipedia

  • Syndrome de Barth — Le syndrome de Barth est une grave maladie génétique liée à l X qui touche essentiellement les garçons. Ce syndrome doit son nom à son découvreur, le pathologiste français Jean Baptiste Barth (1806 1877). Sommaire 1 Les symptômes 1.1 La… …   Wikipédia en Français

  • Syndrome post-commotionnel — Classification et ressources externes CIM 10 F07.2 CIM 9 310.2 eMedicine …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Síndrome de Barth — Clasificación y recursos externos CIE 9 759.89 OMIM 302060 …   Wikipedia Español

  • Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 …   Wikipedia

  • Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”