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<p>Chorea-Acanthocytosis (ChAc) is a rare genetic disorder characterized by progressive neurodegeneration and acanthocytosis in the bloodstream. Biallelic mutations in the Vacuolar Protein Sorting 13 homolog A (<i>VPS13A</i>) gene have been identified as the cause of ChAc. This study aims to report a novel mutation in <i>VPS13A</i> associated with ChAc in two Iranian brothers.&#xa0;Two brothers from an Iranian family, aged 31 and 32, presented with clinical features suggestive of ChAc, including progressive chorea, cognitive decline, and seizures. Whole exome sequencing revealed a novel homozygous frameshift mutation in exon 47 of <i>VPS13A</i> (NM 0018037. 2: c. 6348delA, p. K2117Nfs*16) in both brothers. However, both parents resulted heterozygous carriers.&#xa0;This report describes a previously unreported homozygous frameshift mutation in <i>VPS13A</i> associated with ChAc. This finding broadens the known mutational landscape of <i>VPS13A</i> in the Iranian population and underscores the value of genetic screening in patients with suspected neuroacanthocytosis syndromes.</p>

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A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis

  • 期刊论文

  • 发表日期：

    2025年10月22日

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  • Maryam Salmanian,
  • Fatemeh Mohammadian,
  • Fatemeh Alizadeh

摘要

Chorea-Acanthocytosis (ChAc) is a rare genetic disorder characterized by progressive neurodegeneration and acanthocytosis in the bloodstream. Biallelic mutations in the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene have been identified as the cause of ChAc. This study aims to report a novel mutation in VPS13A associated with ChAc in two Iranian brothers. Two brothers from an Iranian family, aged 31 and 32, presented with clinical features suggestive of ChAc, including progressive chorea, cognitive decline, and seizures. Whole exome sequencing revealed a novel homozygous frameshift mutation in exon 47 of VPS13A (NM 0018037. 2: c. 6348delA, p. K2117Nfs*16) in both brothers. However, both parents resulted heterozygous carriers. This report describes a previously unreported homozygous frameshift mutation in VPS13A associated with ChAc. This finding broadens the known mutational landscape of VPS13A in the Iranian population and underscores the value of genetic screening in patients with suspected neuroacanthocytosis syndromes.