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

被引：6
|
作者：
Hettiarachchi, D. [1 ]
Dissanayake, V. H. W. [1 ]
机构：
[1] Univ Colombo, Fac Med, Human Genet Unit, 25 Kynsey Pl, Colombo 08, Sri Lanka
来源：
BMC RESEARCH NOTES | 2019年 / 12卷 / 01期
关键词：
Metachromatic leukodystrophy; ARSA; Neurodegenerative disorders;
D O I：
10.1186/s13104-019-4773-3
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Objective 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. Results 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.
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页数：4
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