Publications by authors named "O Alper"
Article Synopsis
- Hearing loss (HL) can be caused by variations in over 200 genes, but many families still don't receive a clear genetic diagnosis despite extensive testing.
- In a study involving families with severe to profound, non-syndromic bilateral sensorineural HL, researchers used advanced genetic sequencing techniques to uncover the complexity of multiple gene variants contributing to HL in family members.
- One novel finding included a variant in the TOGARAM2 gene, suggesting it could be linked to autosomal recessive non-syndromic HL, highlighting the importance of analyzing each affected individual to identify both known and potential new HL-related genes.
Article Synopsis
- Hearing loss (HL) is a common condition linked to over 200 different genes, prompting researchers to use exome and genome sequencing to find genetic causes in 322 families from Asia and Latin America.
- The study found that variants in the GJB2 gene were present in 58 participants, but these were excluded from further analysis, as were 38 families with syndromic findings, leading to a focus on 212 families for further genetic testing.
- Exome sequencing revealed 78 variants related to HL in 71 families, with a combined detection rate of 40% using both exome and genome sequencing, the latter proving effective in identifying difficult-to-detect variants in specific genetic regions.
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.
Objective: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children.
Material And Methods: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.
Article Synopsis
- The Cystic Fibrosis Newborn Screening (CFNS) program in Turkey, implemented since January 2015, aims to assess positive cases through demographic, clinical, and laboratory evaluations of infants referred for testing.
- During the study from January 2015 to January 2018, out of 156 cases, only nine infants were diagnosed with cystic fibrosis (CF), while others were related to metabolic syndromes or were carriers, indicating a high false positive rate in screenings.
- The study recommends revising the current cut-off values for immunoreactive trypsinogen (IRT) tests to improve accuracy, as the positive predictive value (PPV) for the screening was low, highlighting significant potential for misdiagnosis in Turkey.