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<p>Two <i>ERLIN2</i> variants (NM_007175.8:c.660delA and NM_007175.8:c.869C&gt;T) were detected in a Spanish patient with hereditary spastic paraplegia via whole-exome sequencing and software-based pathogenic variant selection. Segregation analysis revealed that the patient’s two affected siblings carried both variants, whereas their offspring, carrying only one variant, were asymptomatic, indicating the autosomal recessive nature of the disease. These findings suggest that the identified variants can be classified as pathogenic when they are present as compound heterozygous variants.</p>

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Association of novel ERLIN2 gene variants with hereditary spastic paraplegia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年1月6日

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  • R. Bermejo Ramírez,
  • N. Villena Gascó,
  • L. Ruiz Palmero,
  • G. A. Ribes Bueno,
  • E. S. Yamanaka,
  • J. Piqueras Flores,
  • J. M. Flores Barragán,
  • E. Buces González,
  • J. D. Arroyo Andújar

摘要

Two ERLIN2 variants (NM_007175.8:c.660delA and NM_007175.8:c.869C>T) were detected in a Spanish patient with hereditary spastic paraplegia via whole-exome sequencing and software-based pathogenic variant selection. Segregation analysis revealed that the patient’s two affected siblings carried both variants, whereas their offspring, carrying only one variant, were asymptomatic, indicating the autosomal recessive nature of the disease. These findings suggest that the identified variants can be classified as pathogenic when they are present as compound heterozygous variants.