Three novel variants in the arylsulfatase A

To 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. Twenty patients from eighteen Sri Lankan families were screened for ARSA gene mutations. We found 13 diff...

Full description

Saved in:
Bibliographic Details
Published in:BMC research notes 2019-11
Main Authors: Hettiarachchi, D, Dissanayake, V.H.W
Format: Article
Language:English
Subjects:
Amino acids
Enzymes
Gene mutation
Genes
Genetic aspects
Genetic variation
Health aspects
Metachromatic leukodystrophy
Nervous system diseases
Neurodegenerative diseases
Novels
Sphingolipidoses
Sulfates
Sulfides
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:To 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. Twenty 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.
ISSN:1756-0500
1756-0500
DOI:10.1186/s13104-019-4773-3