Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

Dhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Shagun Aggarwal, Shubha R. Phadke, Chaitanya Datar, Kalpana Gowrishankar, Mahesh Kamate, Jamal Mohammed Nurul Jain, Ashwin Dalal

ABSTRACT

Metachromatic leukodystrophy due to Arylsulfatase A enzyme deficiency is an autosomal recessive disorder caused by biallelic variations in ARSA gene. Till date 186 variations have been reported in ARSA gene worldwide, but the variation spectrum in India is not known. The aim of this study was to identify the variation profile in Indian patients presenting with features of Arylsulfatase A deficient metachromatic leukodystrophy. We sequenced the ARSA gene in 51 unrelated families and identified 36 variants out of which 16 were novel. The variations included 23 missense, 3 nonsense, and 6 frameshift variants (3 single-base deletions and 3 single-base duplications), 1 indel, one 3 bp deletion, and 2 splice site variations. The pathogenicity of the novel variations was inferred with the help of mutation prediction softwares like MutationTaster, SIFT, Polyphen-2, PROVEAN, and HANSA. The effects of the identified sequence variants on the protein structure were studied using in silico methods. The most common variation was c.931 C > T(p.Arg311*), found in 11.4% (14 out of 122 alleles) of the tested individuals. To the best of our knowledge, this study is the first of its kind in India with respect to the size of the cohort and the molecular diagnostic method used and one of the largest cohorts of metachromatic leukodystrophy studied till date. More... »

PAGES

323-331

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-019-0560-1

DOI

http://dx.doi.org/10.1038/s10038-019-0560-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111614592

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30674982


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