Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of deaf probands from six unrelated Chinese families. After excluding pathogenic/likely pathogenic in most common genes, GJB2 and SLC26A4, 12 prelingual deafness autosomal recessive inherita...

Hearing loss is a complex disorder caused by both genetic and environmental factors. Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in Pakistani and Turkish populations. Here we report a novel (c.556C>T; p.(Arg186Trp)) transition mutation in the CIB2 gene identified through whole exome sequencing (WES) in a Caribbean Hispanic family with non-syndrom...

hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported.  the aim of this study was to...

OBJECTIVE Children with a Cleft Palate (CLP) and with or without cleft lips (non-syndromic) universally present with Secretory Otitis Media (SOM). The purpose of this study was to determine the incidence of secretory otitis media that occurs in patients with cleft palates and to confirm the existence of these manifestations by doing a Basic Audiologic Evaluation (BAE). MATERIAL AND METHODS A ...

We have shown here several examples of how hearing and vestibular impaired mouse mutants are generated and the insight that they provide in the study of auditory and vestibular function. These types of genetic studies may also lead to the identification of disease-susceptibility genes, perhaps the most critical element in presbyacusis (age-related hearing loss). Some individuals may be more pro...

this study examined hearing loss prevalence and hearing aid usage rates among korean elders by comparing the differences between those with and without hearing loss, and between those who used and did not use hearing aids.this study was based on data collected during the korean national health and nutrition examination survey v (2010-2012). the study sample consisted of 5,447 koreans aged ≥60 y...