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

TOPÇU M., Aktas D., ÖZTOPRAK M., Mungan N. O., YÜCE A., ALİKAŞİFOĞLU M.

MOLECULAR DIAGNOSIS & THERAPY, cilt.21, sa.6, ss.643-651, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s40291-017-0293-9
  • Dergi Adı: MOLECULAR DIAGNOSIS & THERAPY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.643-651
  • Hacettepe Üniversitesi Adresli: Evet

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.