期刊
CLINICAL GENETICS
卷 86, 期 6, 页码 530-538出版社
WILEY-BLACKWELL
DOI: 10.1111/cge.12316
关键词
5 splice site; acid ceramidase; ASAH1; exon skipping; exonic splicing enhancer; Farber disease; polypyrimidine tract
资金
- council for scientific and industrial research, Government of India
- Department of Biotechnology, Government of India
Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A total of 13 different mutations were identified including 1 splice, 1 polypyrimidine tract (PPT) deletion and 11 missense mutations. Eleven mutations were exclusive to the Indian population. The IVS6+4A>G splice and IVS5-16delTTTTC PPT deletion mutations resulted in skipping of exon 6 precluding thereby the region responsible for cleavage of enzyme precursor. A missense mutation (p.V198A) resulted in skipping of exon 8 due to inactivation of an exonic splicing enhancer (ESE) element. This is the first report of mutations affecting PPT and ESE in the ASAH1 gene resulting in FD.
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