Bashyam, M. D. and Chaudhary, A. K. and Kiran, M. (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clinical Genetics, 86 (6). pp. 530-538.

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Abstract

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.

Item Type:	Article
Uncontrolled Keywords:	5 splice site; acid ceramidase; ASAH1; exon skipping; exonic splicing enhancer; Farber disease; polypyrimidine tract
Subjects:	Genetics
Depositing User:	Unnamed user with email alok@urdip.res.in
Date Deposited:	10 Feb 2015 11:26
Last Modified:	11 Feb 2015 04:36
URI:	http://dst.sciencecentral.in/id/eprint/4

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