We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one ...

A study was conducted on 44 sibs with congenital deafness and goitre, belonging to 26 families. 1-131 uptake test was done in 38 patients and it showed that the percent increase between two successive readings was lower than in euthyroids and those with simple goitre. Perchlorate discharge test was done in 29 cases and it was established that the percentage of discharge was related to the sever...

Deafness is a complete or partial loss of hearing. In Pakistan, the prevalence of this order is high as compared to the other countries because of frequent consanguineous marriages in Pakistan. During present study, DFNB49 was mapped in two unrelated consanguineous families having multiple affected individuals. The maximum LOD score was found 4.71 and 2.74 for PKDF1069 & PKDF751 respectively. T...

The precise architecture of hair bundles, the arrays of mechanosensitive microvilli-like stereocilia crowning the auditory hair cells, is essential to hearing. Myosin IIIa, defective in the late-onset deafness form DFNB30, has been proposed to transport espin-1 to the tips of stereocilia, thereby promoting their elongation. We show that Myo3a(-/-)Myo3b(-/-) mice lacking myosin IIIa and myosin I...

Children born at a very low gestational age, even those without neurosensory damages, are at risk of linguistic disorders. This longitudinal study aimed at analyzing communicative and language abilities in preterm children during their second year of life, through a standardized questionnaire, with particular attention to the communicative and language abilities that predict the first verbal sk...

Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.

LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman wi...

PURPOSE It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients. METH...

A syndrome has previously been recognized, which is characterized by recurrent episodes of loss of consciousness, some of which end fatally. The electrocardiogram in affected subjects shows prolongation of the QT interval. In the present study, 2 unrelated families with a total membership of 82 were investigated; 30 living subjects were examined and 20 were found to be affected. A further 14 me...

Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. We included 10 families with history of deafness from district Mardan, Pakistan. Blood sample (5ml) along with personal and c...