Nowa mutacja (c.1256G > A) w genie CACNA1E u chińskiego pacjenta z epilepsją i wadą serca
A novel mutation (c.1256G > A) was identified in a Chinese patient with epilepsy and congenital heart disease
W skrócie
Badacze znaleźli u małego pacjenta z Chin nowy wariant genetyczny w genie CACNA1E, który powoduje epilepsję i jednocześnie wrodzony defekt serca. Pacjent dobrze reagował na leczenie hormonem ACTH, co sugeruje nowy sposób leczenia tego typu epilepsji. Odkrycie rozszerza wiedzę o przyczynach tej choroby i pokazuje obiecujący kierunek terapii.
Oryginalny abstract (angielski)
BACKGROUND: mutations cause developmental and epileptic encephalopathy. We report a Chinese pediatric patient with epilepsy and congenital heart disease who carries a novel CACNA1E variant. METHODS: Whole-exome sequencing (WES) was performed on the proband and his unaffected parents. The variant was validated by Sanger sequencing and screened in 200 healthy controls. Bioinformatic tools and ACMG criteria were used for pathogenicity assessment. RESULTS: A heterozygous missense variant, NM_000721.4: c.1256G > A (p.R419Q), was identified. It was absent in both parents and in 200 controls. The variant lies in a highly conserved and intolerant region. ACMG classification: likely pathogenic (PS2 + PM2 + PP3). The patient showed marked short-term response to adrenocorticotropic hormone (ACTH). CONCLUSION: This novel variant expands the mutational spectrum of CACNA1E and provides a potential treatment clue for ACTH responsiveness in CACNA1E-related spasms.