Abstract
Hearing impairment (HI) is a highly heterogeneous genetic disorder and is classified into nonsyndromic (without any other clinical manifestations) and syndromic (if combined with other clinical presentations) forms. Variations in GJB2 gene are the leading cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) in several populations worldwide. This study was carried out to investigate the prevalence of GJB2 variations in severe-to-profound hearing impaired families of Southern Punjab of Pakistan. Ten families segregating ARNSHL were recruited from different areas of the region. Sanger sequencing of GJB2 coding region was carried out. In two out of ten families, NM_004004:c.*71G>A (p.(Trp24*)) and NM_004004:c.358_360del (p.(Glu120del)) homozygous variants were identified as the cause of hearing loss. Our study showed that GJB2-related hearing loss accounts for at least 20% of all cases with severe-to-profound hearing loss in the Southern Punjab population of Pakistan.
Highlights
IntroductionDeafness is a prevalent sensory disorder affecting 1 in 650 infants worldwide, with a prevalence of 3.5/1000 in teenagers and 2.7/1000 in children making it the most common hereditary sensory impairment [1]
Deafness is a prevalent sensory disorder affecting 1 in 650 infants worldwide, with a prevalence of 3.5/1000 in teenagers and 2.7/1000 in children making it the most common hereditary sensory impairment [1].It is a multifactorial disorder associated with environmental and genetic causes
This research will help in genetic counselling of these families to avoid carrier to carrier or carrier to affected marriages, which will result in a decrease in the deaf population in Southern Punjab
Summary
Deafness is a prevalent sensory disorder affecting 1 in 650 infants worldwide, with a prevalence of 3.5/1000 in teenagers and 2.7/1000 in children making it the most common hereditary sensory impairment [1]. It is a multifactorial disorder associated with environmental and genetic causes. Deafness can be classified into nonsyndromic and syndromic deafness. Nonsyndromic deafness is isolated deafness with no other clinical manifestations, while syndromic deafness is associated with other metabolic or physiological conditions. In case of nonsyndromic deafness, the most common inheritance pattern is autosomal recessive. 87 autosomal recessive nonsyndromic loci and 77 genes have
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