Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of hearing loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-...

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...

Hearing loss affects more than 25 million Americans and costs over 50 billion dollars each year, surpassing the combined financial impact of multiple sclerosis, stroke, epilepsy, spinal injury, Huntington’s, and Parkinson’s disease (1). Inherited deafness affects one child in 2,000, and equal numbers of children are born with a significant loss of hearing from other causes (2). In the general p...

OBJECTIVE The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China. METHODS We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then ...

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...

Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To study the origin of this mutation and determine whether it arose in a common an...

OBJECTIVE To analyze the relationship between pure-tone hearing threshold and speech recognition performance in DFNA2/KCNQ4 and DFNA9/COCH, 2 types of high-frequency nonsyndromic hearing impairment. DESIGN Case series with cross-sectional analysis of phoneme recognition scores related to age and hearing level. SETTING University hospital. PATIENTS Forty-five members of 4 separate families...

Myosins are molecular motors that use the energy from ATP hydrolysis to generate force and move along actin filaments. Conventional myosin, or myosin-II, has the specialized ability to form bipolar filaments and is the basis for muscle contraction. Mutations in conventional myosins have been observed in man; dominant cardiomyopathies arise from mutations in P-cardiac myosin-II and other myosin-...

Otosclerosis is a frequent cause of nonsyndromic hearing loss which affects exclusively the human temporal bone. Various etiopathogenetic hypotheses have been proposed. The major hypotheses considered are genetic factors, immunologic factors and viral infection. Since the familial incidence of otosclerosis is known a recent genetic analysis has given evidence of three otosclerosis genes (OTSC1-...

The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In...