Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.

摘要 异染性脑白质营养不良（Metachromatic leukodystrophy, MLD）是一种常染色体隐性遗传性溶酶体贮积症。该病由芳基硫酸酯酶A（arylsulfatase A, ARSA）的功能缺陷引发，该酶由ARSA基因编码。不同人群中已报道存在多种致病突变。本研究旨在检测三名伊朗相关患者的ARSA基因突变类型。研究人员在这些患者的第6号外显子中，发现了一种全新的纯合错义突变c.1070 G>T（p.Gly357Val）。该突变为首次在MLD患者中报道的新发突变。本研究数据可更新MLD的突变谱，有助于优化MLD患者的临床管理与遗传咨询工作。