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
MOLECULAR DIAGNOSIS & THERAPY, vol.21, no.6, pp.643-651, 2017 (SCI-Expanded, Scopus)
- 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 (SCI-EXPANDED), Scopus
- Page Numbers: pp.643-651
- Çukurova University Affiliated: Yes
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.