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Barth 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 affects at least one hundred (~ 100) worldwide families. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait. The syndrome is believed to be severely under-diagonsed and 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.
Mutations in the BTHS gene 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; 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 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 scheduled for early July, 2006 at Disney world in Orlando Fl. For more information contact the Barth Syndrome Foundation, Inc. at http://www.barthsyndrome.org.
External links
- http://www.barthsyndrome.org/ Barth Syndrome Foundation, headed by Shelley Bowen
- NINDS
- http://www.csun.edu/~hcbio033/barth.html
- http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome
"Barth syndrome"