ArticleMolecular diagnosis & therapy2017
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.
Article in Molecular diagnosis & therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- SMPD1 gene variants in patients with β-Thalassemia major.Molecular biology reports · 2023Article
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.International journal of molecular sciences · 2020Review
- New variants in Spanish Niemann-Pick type c disease patients.Molecular biology reports · 2020Article
- Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?Orphanet journal of rare diseases · 2019Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-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.
methodsProbands were selected from a Turkish National Registration Database. Probands had confirmed diagnosis based on NPC1 or NPC2 mutations, with clear indication for consanguineous, homozygous inheritance. Family members were identified from interviews and pedigree analysis. Genetic analysis was performed on DNA from peripheral blood samples from all subjects.
resultsFour probands and 510 individuals from the four families were included. In these four families, the overall NPC1 or NPC2 heterozygous mutation frequency was 22.7%. A novel mutation was identified in NPC1 (p.T375P; c.1123A>C). A previously described NPC2 mutation (p.E118X; c.352G>T) was also observed in two families from different regions of Turkey. We identified two new patients with NP-C from two families.
conclusionsThis is the largest screening study conducted to date in Turkey in the families of patients with NP-C with homozygous inheritance. We have reported heterozygote frequencies, identified a novel mutation, and detected new patients with NP-C. These findings will aid our understanding of NP-C and may lead to improved recognition and more timely diagnosis.
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