BACKGROUND The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive deafness. We, therefore, for the first time, investigated the prevalence and frequency of the GJB2 gene mutation in the Iranian deaf population with Arabian origins. MATERIALS AND METHODS We amplified and sequenced the entire coding sequ...

Autosomal recessive childhood-onset non-syndromic deafness is one of the most frequent forms of inherited hearing impairment. Recently five different chromosomal regions, 7q31, 11q13.5, 13q12, 14q and the pericentromeric region of chromosome 17, have been shown to harbour disease loci for this type of neurosensory deafness. We have studied a large family from Pakistan, containing several consan...

OBJECTIVE To determine the existence of autosomal recessive deafness loci in different ethnic tribes of the Punjab. STUDY DESIGN Descriptive observational study. PLACE AND DURATION OF STUDY Department of Human Genetics and Centre of Excellence in Molecular Biology, University of Health Sciences, Lahore, from July 2009 to March 2012. METHODOLOGY Healthy willing subjects with autosomal rece...

mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...

Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal recessive non-syndromic deafness. In spite of significant advances in the understanding of the molecular basis of hearing loss, identifying the precise genetic cause in an individual remains difficult. Consequently, it is impo...

We report a case of Type 1 Renal Tubular Acidosis (RTA) in association with sensorineural deafness. Inherited Type 1 RTA is usually autosomal dominant, though there is a rarer recessive form associated with nerve deafness. Simple alkali replacement can correct the systemic metabolic defect, but does not appear to ameliorate hearing loss.

Within an epithelial cellular sheet, the paracellular pathway can be divided into two routes: one between two adjacent cells and one at tricellular contacts, where the vertices of three cells meet. For epithelial barrier function, tight junctions restrict solute permeability through the paracellular pathway between two cells, while tricellular contacts contain specialized structures of tight ju...

Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which also known as DIDMOAD. Classical a rare autosomal recessive disorder caused mutations in WFS1, gene involved endoplasmic reticulum mitochondrial function. Patients present with type 1 followed atrophy first decade, insipidus sensorineural deafness second dilated renal outflow tracts earl...

despite the enormous heterogeneity of genetic hearing loss, mutations in the gjb2 (connexin 26) gene located on “dfnb1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (arnshl) in some populations. this study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least on...

We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.