Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of deaf probands from six unrelated Chinese families. After excluding pathogenic/likely pathogenic in most common genes, GJB2 and SLC26A4, 12 prelingual deafness autosomal recessive inherita...

BACKGROUND Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. OBJECTIVE To investigate the genes involved in a Dutch family with NSSHL. METHODS Linkage analysis in a large Dutch pedigree with progressive bilateral loss of the...

Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was es...

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...