作者
Durkadin Demir Eksi, Elanur Yilmaz, A Erdem Basaran, Gizem Erduran, Banu Nur, Ercan Mihci, Bulent Karadag, Aysen Bingol, Ozgul M Alper
发表日期
2022/3/3
期刊
Indian Journal of Pediatrics
页码范围
1-10
出版商
Springer India
简介
Objectives
To determine the demographic, clinical, and genetic profile of Turkish Caucasian PCD cases.
Methods
Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed in 21 unrelated PCD cases. Sanger sequencing confirmed of potentially disease-related variations, and genotype–phenotype correlations were evaluated.
Results
Disease-related variations were identified in eight different genes (CCDC39, CCDC40, CCDC151, DNAAF2, DNAAF4, DNAH11, HYDIN, RSPH4A) in 52.4% (11/21) of the cases. The frequency of variations for CCDC151, DNAH11, and DNAAF2 genes which were highly mutated genes in the cohort was 18% in 11 patients. Each of the remaining gene variations was detected once (9%) in different patients. The variants, p.R482fs*12 in CCDC151, p.E216* in DNAAF2, p.I317* in DNAAF4, p.L318P and p.R1865* in DNAH11, and p.N1505D and p.L1167P in HYDIN …
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D Demir Eksi, E Yilmaz, AE Basaran, G Erduran, B Nur… - Indian Journal of Pediatrics, 2022