Hereditary hearing loss is a highly heterogeneous disease with autosomal recessive nonsyndromic hearing loss
(ARNSHL) being the most frequent condition occurring in 70% of the cases and syndromic in the other 30% .
Approximately, 70% of the deafness without other symptoms is known as nonsyndromic hearing loss
Functional evaluation of GJB2 variants in nonsyndromic hearing loss
. Mol Med 2011; 17: 550-6.
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss
. J Genet Genomics 2010;37:787-93.
The examined group consisted of 337 subjects (including 132 affected) from 54 families from Syria, where 2 or more subjects (up to 6) showed a prelingual, profound, sensorineural, bilateral, and nonsyndromic hearing loss
within a family.
Lee, "Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss
," Gene, vol.
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.