Barth syndrome

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 fifty (~ 70) worldwide families. Today, two are known to live in Australia and a few dozen in the United States, Canada, and Europe. More children can be undiagnosed, but it is recorded that fewer than 10 Barth Syndrome infants are born per year in the U.S. The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery.

Quickfacts About Associated Protein: G4.5 / TAZ1 / BTHS

-The BTHS gene is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure.

-It 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.

Chromosome: Xq28; the long arm of the X chromosome

Mutations: Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.

External link

http://www.barthsyndrome.org/ Barth Syndrome Foundation, headed by Shelley Bowen

http://www.ninds.nih.gov/disorders/barth/barth.htm

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