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

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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.

Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss

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).

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Tekin, "Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey," Genetic Testing and Molecular Biomarkers, vol.

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p133.

Non-syndromic Autosomal Recessive Deafness in Pakistani Population: Epidemiology and Genetics

The first major break in the hunt for nonsyndromic deafness genes came when Pedro E.

Genes of silence: scientists track down a slew of mutated genes that cause deafness

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.

No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans

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).

Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment

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).

Short Communication - Genetic Screening of Neonates for 20 Most Common Mutations in Deafness Associated Genes in Anhui Province of China

Rabionet et al., "Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients," Journal of Molecular Medicine, vol.

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment