A5039707383- RNA regulation and disease
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Microtubule and mitosis dynamics
- RNA modifications and cancer
- Cerebrovascular and genetic disorders
- Metabolism and Genetic Disorders
- Ion channel regulation and function
- Congenital heart defects research
- Cell Adhesion Molecules Research
- Immunodeficiency and Autoimmune Disorders
- Ubiquitin and proteasome pathways
- Cellular transport and secretion
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
Dokuz Eylül University
2018-2021
Children's Hospital of Eastern Ontario
2020
University of Ottawa
2020
Abstract Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk autosomal recessive genetic conditions, leading to severe disability or premature death, with significant health and economic burden. A definitive molecular diagnosis could not be achieved these children previously, as infrastructures access sophisticated diagnostic options were limited. We studied the cause neurogenetic disease 246 from 190 consanguineous families recruited three Turkish...
In 2009, we identified TACO1 as a novel mitochondrial disease gene in single family, however no second family has been described to confirm the role of disease.In this report, describe two independent consanguineous families carrying pathogenic variants TACO1, confirming phenotype.Detailed clinical investigations and whole exome sequencing with haplotype analysis have performed several members reported families.Clinical phenotype patients confirms originally childhood-onset progressive...
Abstract A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay facial dysmorphism, caused heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating located throughout gene, missense changes principally at C-terminal end of protein mostly resulting haploinsufficiency . Through whole exome sequencing, we identified a homozygous variant patient showing more severe symptoms than...
<h3>Objective</h3> This study presents the neurologic phenotypes of 2 brothers with a novel homozygous <i>COL4A1</i> mutation that was identified in large Turkish consanguineous cohort neurogenetic diseases. <h3>Methods</h3> Whole-exome sequencing and bioinformatic analysis families children affected by early-onset, disorders performed using RD-Connect Genome-Phenome Analysis Platform. We also clinical, EEG, neuroimaging analyses unaffected siblings parents. <h3>Results</h3> have missense...
Microtubules help building the cytoskeleton of neurons and other cells. Several components gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmental delay, brain malformation, epilepsy carrying homozygous mutation (p.Glu311Lys) TUBGCP2 encoding γ-tubulin 2 (GCP2) protein. This variant is predicted to disrupt electrostatic interaction GCP2 GCP3. In...