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Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

Authors
  • Hettiarachchi, D.1
  • Dissanayake, V. H. W.1
  • 1 University of Colombo, Human Genetics Unit, Faculty of medicine, 25, Kynsey Place, Colombo 08, Sri Lanka , Colombo 08 (Sri Lanka)
Type
Published Article
Journal
BMC Research Notes
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Nov 06, 2019
Volume
12
Issue
1
Identifiers
DOI: 10.1186/s13104-019-4773-3
Source
Springer Nature
Keywords
License
Green

Abstract

ObjectiveTo describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.ResultsTwenty patients from eighteen Sri Lankan families were screened for ARSA gene mutations. We found 13 different genetic variants of these three were novel. The three novel variants were p.Asp281Asn, p.Asp283Asn, p.Ala344Asp. Seven patients out of 20 were also positive for the pseudodeficiency (PD) allele c.1049A>G (p.Asn350Ser). This is the first report to describe the molecular genetic variants of Sri Lankan patients with MLD.

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