Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data

Ozturk H., Bas H., Yapici Z., Devrez F., Yilmaz M. B., Ocal M., ...Daha Fazla

Movement Disorders, 2026 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1002/mds.70330
  • Dergi Adı: Movement Disorders
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE
  • Anahtar Kelimeler: carrier frequency, consanguinity, exome sequencing, Middle East, NBIA, rare neurological disorders
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited disorders characterized by iron accumulation in the basal ganglia. Although the prevalence is estimated at 0.1–0.3 per 100,000,000 individuals, epidemiological data remain limited. Objectives: To determine the carrier frequency and lifetime risk ratios of autosomal recessive NBIA disorders within a Middle Eastern cohort by screening eight established NBIA genes in a large regional exome cohort. Methods: Variants in NBIA-associated genes were analyzed in 16,769 individuals using whole-exome sequencing, clinical-exome sequencing, and TruSight One panels. Results: The lifetime risk of autosomal recessive NBIA disorders was estimated at 3.43 per 1,000,000 individuals (95% CI 1.43–6.46). PLA2G6 contributed the largest proportion of the estimated disease burden, followed by PANK2 and C19orf12. Conclusions: This is the first systematic analysis of lifetime risk and carrier frequencies of NBIA in Middle Eastern populations. The findings suggest a notable carrier frequency and highlight the need for region-specific genetic screening. © 2026 International Parkinson and Movement Disorder Society.