The implementation of universal screening programs to detect hearing defects in newborns
has dramatically increased the identification of hearing loss in infants. Recent advances in …

During the past three to four decades, the incidence of acquired sensorineural hearing loss
(SNHL) in children living in more developed countries has fallen, as a result of improved …

Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and
non-syndromic deafness in western populations. Although south and east Asia contain …

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 …

▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …

Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal
recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene …

Given the unique biological requirements of sound transduction and the selective advantage
conferred upon a species capable of sensitive sound detection, it is not surprising that up to …

Etiological studies have shown genetic disorders to be a major cause of sensorineural
hearing loss, but there are a limited number of comprehensive etiological reports based on …