A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome.

摘要

Barth syndrome is characterized by X-linked cardiomyopathy, neutropenia, skeletal myopathy, growth delays, lipid abnormalities and increased excretion of 3-methylglutaconic acid [Barth et al, 1983; Kelley et al., 1991]. The locus causing Barth Syndrome was mapped to Xq28 and the tafazzin or TAZgene was identified in 1996 [Bione et al., 1996]. Since then, more than 90 mutations in the TAZ gene have been identified according to the Barth Syndrome Foundation (www.barthsyndrome.org), which include frameshift, duplication, nonsense and missense mutations [Johnston et al., 1997; Brady et al., 2006]. There is no strong genotype-phenotype correlation, with patients presenting with a variable course of the disease [Gedeon et al., 1995; Barth et al., 2004].