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<p>Gangliosidosis is a hereditary metabolic disorder inherited in an autosomal recessive manner. This disorder is marked by the accumulation of gangliosides in the central nervous system, leading to considerable and progressive neurological deficits. In the current study, we described the clinical findings and genetic variations observed in 12 patients manifesting symptoms of gangliosidosis disorders. The results of molecular investigations revealed the presence of different variants in the <i>HEXA</i> (three cases), <i>HEXB</i> (four cases) and <i>GLB1</i> genes (five cases) in the patients. Notably, the c.833C &gt; T (p.A278V) variant in the <i>HEXB</i> was detected in two unrelated cases. Four novel variants were also detected, including two likely pathogenic variants in the <i>HEXB</i> gene, namely c.1083-2del and c.1616_1622dup (p.Ile541Metfs*14). A single case had three variants in the <i>GLB1</i> gene, including two novel variants (c.545C &gt; T and c.631G &gt; C); and a previously reported pathogenic variant (c.601C &gt; T). The current study broadens the spectrum of genetic variations in Iranian patients with different types of gangliosidosis. This information is also important for the process of genetic counseling in the affected families.</p>

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Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis

  • 期刊论文

  • 发表日期：

    2025年4月2日

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  • Sheyda Khalilian,
  • Mohadeseh Fathi,
  • Mona Alizadeh,
  • Fatemeh Larki Darabi,
  • Shadab Salehpour,
  • Saeed Anvari,
  • Mohammad Miryounesi,
  • Soudeh Ghafouri-Fard

摘要

Gangliosidosis is a hereditary metabolic disorder inherited in an autosomal recessive manner. This disorder is marked by the accumulation of gangliosides in the central nervous system, leading to considerable and progressive neurological deficits. In the current study, we described the clinical findings and genetic variations observed in 12 patients manifesting symptoms of gangliosidosis disorders. The results of molecular investigations revealed the presence of different variants in the HEXA (three cases), HEXB (four cases) and GLB1 genes (five cases) in the patients. Notably, the c.833C > T (p.A278V) variant in the HEXB was detected in two unrelated cases. Four novel variants were also detected, including two likely pathogenic variants in the HEXB gene, namely c.1083-2del and c.1616_1622dup (p.Ile541Metfs*14). A single case had three variants in the GLB1 gene, including two novel variants (c.545C > T and c.631G > C); and a previously reported pathogenic variant (c.601C > T). The current study broadens the spectrum of genetic variations in Iranian patients with different types of gangliosidosis. This information is also important for the process of genetic counseling in the affected families.