Abstract
A Case Report of Family with Congenital Non-Syndromic Hearing Loss (NSHL) with Variants of Uncertain Significance (VUS) in GATA3 and COLA43 Genes
Highlights
Hearing impairment is the frequent sensory deficit in human populations
Evaluating the causes of non-syndromic hearing loss is important for diagnosis, clinical management, genetic counselling, and potential prevention
Nonsyndromic hearing loss is inherited in the following modes: autosomal recessive (80-85%), autosomal dominant (10-15%), X linked (1%) and mitochondrial (
Summary
Generation sequencing (NGS) based deafness gene panel results identified variant of uncertain significance (VUS) c.709_710insG Ser237ArgfsTer67) in exon 3 of GATA3 (+) (ENST00000379328.3) gene in heterozygous condition with autosomal dominant pattern in the 7 years old male proband and his mother. Gly291Val) with uncertain significance (VUS) in exon 15 of COL4A3 (+) (ENST00000396578.3) gene was identified only in the mother
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