OBJECTIVE To perform comprehensive network and pathway analyses of the genes known to cause genetic hearing loss. STUDY DESIGN In silico analysis of deafness genes using ingenuity pathway analysis (IPA). METHODS Genes relevant for hearing and deafness were identified through PubMed literature searches and the Hereditary Hearing Loss Homepage. The genes were assembled into 3 groups: 63 genes...

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing wa...

BACKGROUND Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea an...

Hearing loss due to mutations in the connexin gene family, which encodes gap junctional proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease. In the clinic, Cx26 mutations cause various auditory phenotypes ranging from profound congenital deaf...

Genetic factors are thought to account for approximately one half of cases of childhood hearing loss, the majority of which is non-syndromic and not associated with other abnormalities. Seventy-seven percent of hereditary, non-syndromic, prelingual deafness is autosomal recessive, 22% is autosomal dominant, and 1% is transmitted as a matrilineal or X linked trait. So far, more than 30 distinct ...

It is estimated that about one half of all congenital deafness and/or hearing impairment is inherited and that approximately one third of this communicative disorder is associated with syndromic abnormalities. The remainder of inherited deafness occurs as an isolated entity, independent of alterations in physical status or any disease process. This latter group typically presents with no clinic...

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-...

Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life. Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent etiological factor in deafness in developed countries. T...