Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.

• Tác giả: Reetta Hinttala, Salla M Kangas, Hannaleena Kokkonen, Katariina Mankinen, Naemeh Nayebzadeh, Jaakko Oikarainen, Elisa Rahikkala, Maria Suo-Palosaari, Johanna Uusimaa, Päivi Vieira
• Ngôn ngữ: eng
• Ký hiệu phân loại: 331.25 Other conditions of employment
• Thông tin xuất bản: Netherlands : Mitochondrion , 2025
• Bộ sưu tập: NCBI
• ID: 731223

Tóm tắt

 Leigh syndrome is the most common phenotype of mitochondrial disorders in children. This study demonstrates clinical, neuroradiological, and molecular genetic findings in siblings with Leigh syndrome and isolated complex I assembly defect associated with intronic c.16 + 5G >
  A variant in the NDUFS7 gene. Whole exome sequencing was carried out to identify the causative variant. The gene and protein expression of NDUFS7 were studied using patient-derived fibroblasts. Assembly of mitochondrial respiratory chain enzymes was analyzed using Blue Native PAGE. This study shows that the NDUFS7 c.16 + 5G >
  A variant (rs375282422) has a causative role in Leigh syndrome. Evolution of neuroimaging findings related to this gene variant are demonstrated.