Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified ...

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

Oto-spondylo-megaepiphyseal dysplasia (OSMED) is considered to be an autosomal recessive disorder characterized by sensorineural hearing loss, short extremities in spite of normal body length, and abnormally thick joints. We present audiologic results and follow-up of two siblings (normal mother, affected father, 3 of 4 affected children). Given the severity of the hearing loss and, in some cas...

The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...

Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with DFNB1-related defect in many worldwide populations. Given the heterogeneity of the trait together with the unique infrastructure of Iranian populat...

biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. biotinidase enzyme is essential for release of biotin from apoenzymes. absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...

Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11–22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with autosomal-recessive nonsyndromic heari...

Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJ...

Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analys...