ERLIN2 Gene Variants Linked to Hereditary Spastic Paraplegia
Author Information
Author(s): 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.
Primary Institution: Progenie Molecular S.L.U, Valencia, Spain
Hypothesis
Can ERLIN2 gene variants be classified as pathogenic in hereditary spastic paraplegia?
Conclusion
The identified ERLIN2 variants are pathogenic when present as compound heterozygous variants in hereditary spastic paraplegia.
Supporting Evidence
- Two ERLIN2 variants were detected in a Spanish patient with hereditary spastic paraplegia.
- Segregation analysis showed that the patient's affected siblings carried both variants.
- The variants were classified as pathogenic when present as compound heterozygous variants.
Takeaway
This study found two gene changes in a family that cause a type of movement disorder called hereditary spastic paraplegia, showing that these changes can be harmful when inherited together.
Methodology
Whole-exome sequencing and segregation analysis were used to identify and confirm the ERLIN2 variants.
Limitations
The study did not include genetic testing of the parents of the affected siblings.
Participant Demographics
The study involved a Spanish family with three affected siblings and their unaffected offspring.
Digital Object Identifier (DOI)
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