Functional evaluation of GJB2 variants in nonsyndromic hearing loss
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss
Approximately half of the genetically inherited hearing loss cases in Caucasians and 1/3 of nonsyndromic hearing loss
in the Greek population are associated with mutations in GJB2 gene.
Across all ethnic groups, the most common carrier frequencies for clinically significant disorders were for cystic fibrosis, DFNB1 nonsyndromic hearing loss
and deafness, spinal muscular atrophy, familial Mediterranean fever, Smith-Lernli-Opitz syndrome, sickle cell disease/beta-thalassemia, and Gaucher disease.
Another study at the meeting reported a 25% success rate for establishing a diagnosis in nonsyndromic hearing loss
with adult onset (E.
A new large detection in the DFNBl locus causes nonsyndromic hearing loss
Nonsyndromic hearing loss
with the history of aminoglycoside exposure in Japanese population showed 33 per cent of A1555G mutation (87), whereas only 13 per cent in Chinese population (88).
Distribution and frequencies of PDS(SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss
associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
Autosomal Dominant Nonsyndromic Hearing Loss
Loci Characteristics Locus/Location Gene Name Onset/Decade Type DFNA1/5q31 HDIA1 Postlingual/1st-2nd Progressive DFNA2/1p34 GJB3(Cx31) Postlingual/2nd-3rd Progressive DFNA3/13q12 GJB2(Cx26) Prelingual Stable DFNA4/19q13 GJB2(Cx30) Postlingual/2nd Progressive DFNA5/7p15 DFNA5 Postlingual/1st-2nd Progressive DFNA6/4p16.
Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss
, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI).
Genetic analysis of genetic resource place DFNB4/ PDS as most prevalent deafness locus with contribution in both syndromic and nonsyndromic hearing loss
in Pakistani population (Anwar et al.
Background: Nonsyndromic hearing loss
(NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified.