nonsyndromic deafness


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Related to nonsyndromic deafness: autosomal recessive hearing loss

nonsyndromic deafness

Any form of hereditary hearing impairment caused by one of many genetic mutations, e.g., in somatic, mitochondrial, or X-linked genes.
See also: deafness
Medical Dictionary, © 2009 Farlex and Partners
References in periodicals archive ?
Weston et al., "CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with usher syndrome and nonsyndromic deafness," American Journal of Human Genetics, vol.
The X-linked POU3F4 gene is the first nuclear gene implicated in nonsyndromic deafness. The type of HL may be SNHL or mixed and associated with IP-III (incomplete partition type 3), cochlear hypoplasia, and/or stapes fixation (DFN3) (36-39).
Tekin, "Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey," Genetic Testing and Molecular Biomarkers, vol.
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p133.
The first major break in the hunt for nonsyndromic deafness genes came when Pedro E.
In search of genetic markers for nonsyndromic deafness in Africa: A study in Cameroonians and black South Africans with the GJB6 and GJA1 candidate genes.
To facilitate the identification of additional mutations causing drug susceptibility in the 12S rRNA gene, an additional mutational analysis of the mitochondrial 12S rRNA gene was initiated in two hearing impaired Chinese populations which revealed a homoplasmic C-to-T transition at position 1494 (C1494T) in a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness (77,88,99).
In the East Asian region, the 235delC of GJB2 is the most frequent cause of inherited nonsyndromic deafness ranging from 5.10 to 34.0% (Abe et al., 2000; Wang et al., 2002; Ohtsuka et al., 2003; Hwa et al., 2003; Lee et al., 2008; Lu et al., 2011).
Rabionet et al., "Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients," Journal of Molecular Medicine, vol.