Non syndromic hearing impairment is a common sensory disorder, which affects one in 600 newborns. Though more than 50 nuclear genes are involved in causing non syndromic hearing impairment, mutations in the connexin 26 (GJB2) gene explain a high proportion of congenital deafness in several populations worldwide. The diversity of genes and genetic loci implicated in hearing loss defines the comp...

Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing...

Approximately one child per 1000 is diagnosed with severe, profound, or early onset hearing impairment, of whom approximately 50% are thought to have a genetic cause. 2 Associated clinical findings, if present and recognised neonatally, often facilitate the identification of a syndrome and the prediction that a hearing problem is likely to be part of the clinical profile. While the presence of ...

BACKGROUND Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance. METHODS AND RESULTS We identified a small consanguineous family with six patients with cone-rod dystrophy from t...

Perrault syndrome 5 is a rare autosomal recessive disorder that characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity neurologic deficits due to variants twinkle mtDNA helicase (<i>TWNK</i>) gene. Since develop gradually, patient often misdiagnosed other neurological disease during early age. Herein, we report case geneticall...

BACKGROUND Audiological evaluation of parents of individuals with autosomal recessive hearing loss. AIM To study the audiological profile of parents of individuals with autosomal recessive hearing loss, inferred by family history or by molecular tests that detected heterozygous mutations in the GJB2 gene. This gene codes Connexin 26. METHOD Participants were 36 subjects, ranging between 30 ...

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G-->T mutation in GJB2 in all affected members of a large family with late childhood onset of autosomal dom...

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G→T mutation in GJB2 in all aVected members of a large family with late childhood onset of autosomal domina...

The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To date there is no compre...