Key result
Targeted next-generation sequencing identified disease-causing or risk-associated gene mutations in 65.0% of patients with primary periodic paralysis, with SCN4A, KCNJ2, and CACNA1S variants accounting for 92.5% of the genetic diagnoses.
Why the study?
Molecular diagnosis of primary periodic paralysis previously relied on Sanger sequencing of hot spots or exon-by-exon screening of reported genes.
Does targeted next-generation sequencing identify gene mutations in patients with primary periodic paralysis?
Observational (n=60)
Does targeted next-generation sequencing identify gene mutations in patients with primary periodic paralysis?
Targeted next-generation sequencing is an effective approach for identifying genetic mutations in patients with primary periodic paralysis, achieving a 65% diagnostic yield.
May aid molecular diagnosis of primary periodic paralysis; leaves open prospective validation before routine adoption.
BACKGROUND: Primary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of hot spots or exon-by-exon screening of the reported genes. METHODS: We developed a gene panel that includes 10 ion channel-related genes and 245 muscular dystrophy- and myopathy-related genes and used this panel to diagnose 60 patients with primary periodic paralysis and identify the disease-causing or risk-associated gene mutations. RESULTS: Mutations of 5 genes were discovered in 39 patients (65.0%). SCN4A, KCNJ2 and CACNA1S variants accounted for 92.5% of the patients with a genetic diagnosis. CONCLUSIONS: Targeted next-generation sequencing offers a cost-effective approach to expand the genotypes of primary periodic paralysis. A clearer genetic profile enables the prevention of paralysis attacks, avoidance of triggers and the monitoring of complications.
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Luo et al. (2019) conducted an observational in Primary periodic paralysis (n=60). Targeted next-generation sequencing was evaluated on Identification of disease-causing or risk-associated gene mutations (diagnostic yield). Targeted next-generation sequencing identified disease-causing or risk-associated gene mutations in 65.0% of patients with primary periodic paralysis, with SCN4A, KCNJ2, and CACNA1S variants accounting for 92.5% of the genetic diagnoses.
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