Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member


Topcu M., Aktas D., Oztoprak M., Mungan N. O. , YÜCE A., ALİKAŞİFOĞLU M.

MOLECULAR DIAGNOSIS & THERAPY, cilt.21, ss.643-651, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 21 Konu: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s40291-017-0293-9
  • Dergi Adı: MOLECULAR DIAGNOSIS & THERAPY
  • Sayfa Sayısı: ss.643-651

Özet

Background Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations.