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<p>Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T &gt; C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G &gt; C), p.S235P (c.703T &gt; C) and p.N409S (c.1226&#xa0;A &gt; G) variants, respectively. This study demonstrates the prevalence of a pathogenic <i>GBA</i> variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.</p>

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Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients

  • 期刊论文

  • 发表日期：

    2025年10月17日

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  • Mohammad Miryounesi,
  • Mohadeseh Fathi,
  • Sheyda Khalilian,
  • Faezeh Sherafat,
  • Soudeh Ghafouri-Fard,
  • Shadab Salehpour

摘要

Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T > C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G > C), p.S235P (c.703T > C) and p.N409S (c.1226 A > G) variants, respectively. This study demonstrates the prevalence of a pathogenic GBA variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.