Bermejo Ramírez R, Villena Gascó N, Ruiz Palmero L, Ribes Bueno G A, Yamanaka E S, Piqueras Flores J, Flores Barragán J M, Buces González E, Arroyo Andújar J D
Progenie Molecular S.L.U, Valencia, Spain.
Inherited Cardiomyopathies Unit, Cardiology Department, Ciudad Real University General Hospital, Ciudad Real, Spain.
Hum Genome Var. 2025 Jan 6;12(1):3. doi: 10.1038/s41439-024-00305-9.
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.
通过全外显子组测序和基于软件的致病变异筛选，在一名患有遗传性痉挛性截瘫的西班牙患者中检测到两个ERLIN2变体（NM_007175.8:c.660delA和NM_007175.8:c.869C>T）。分离分析显示，该患者的两个患病兄弟姐妹携带这两个变体，而他们仅携带一个变体的后代没有症状，表明该疾病为常染色体隐性遗传。这些发现表明，当所鉴定的变体以复合杂合变体形式存在时，可被分类为致病性变体。
