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<p>Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in the arylsulfatase A (<i>ARSA</i>) gene. Few studies have assessed the spectrum of <i>ARSA</i> mutations among Iranian patients. Here, we report eight Iranian patients with clinical features of MLD. Whole exome sequencing led to identification of the underlying mutation in <i>ARSA</i> gene in these patients. Among identified mutations was the recurrent c.938G &gt; C (p.R313P) mutation in exon 5 of this gene, showing its relatively high frequency among Iranians. The results of this study helps in design of population-specific panels for screening purposes in order to decrease the burden of MLD.</p>

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Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy

  • 期刊论文

  • 发表日期：

    2025年1月13日

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  • Mohadeseh Fathi,
  • Sheyda Khalilian,
  • Mohammad Miryounesi,
  • Soudeh Ghafouri-Fard

摘要

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in the arylsulfatase A (ARSA) gene. Few studies have assessed the spectrum of ARSA mutations among Iranian patients. Here, we report eight Iranian patients with clinical features of MLD. Whole exome sequencing led to identification of the underlying mutation in ARSA gene in these patients. Among identified mutations was the recurrent c.938G > C (p.R313P) mutation in exon 5 of this gene, showing its relatively high frequency among Iranians. The results of this study helps in design of population-specific panels for screening purposes in order to decrease the burden of MLD.