GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION

Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients

MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES

Objective: Craniosynostosis (CS) associated genes (FGFR1-3, TWIST1, MSX2, POR, FREM1 and RAB23) were investigated in order to determine the mutation rates and establish an effective flow chart for molecular genetic diagnosis for syndromic (SCS) and non-syndromic craniosynostosis (NSCS)