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, vol.21, no.6, pp.643-651, 2017 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1007/s40291-017-0293-9
  • Journal Name: MOLECULAR DIAGNOSIS & THERAPY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.643-651

Abstract

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.