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Nonsyndromic deafness constitutes 75% of all hearing loss cases, and an estimated 100 genes are thought to be linked to this condition. About 80% are linked to autosomal recessive inheritance, 15% to autosomal dominant inheritance, 1-3% through the X chromosome, and 0.5-1% are associated with mitochondrial inheritance .
2706 14619 Ensembl ENSG00000165474 ENSMUSG00000046352 UniProt P29033 Q00977 RefSeq (mRNA) NM_004004 NM_008125 RefSeq (protein) NP_003995 NP_032151 Location (UCSC) Chr 13: 20.19 – 20.19 Mb Chr 14: 57.34 – 57.34 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 ...
The most common type of congenital hearing loss in developed countries is DFNB1, also known as connexin 26 deafness or GJB2-related deafness. The most common dominant syndromic forms of hearing loss include Stickler syndrome and Waardenburg syndrome. The most common recessive syndromic forms of hearing loss are Pendred syndrome and Usher syndrome.
Hearing loss is a partial or total inability to hear. [5] Hearing loss may be present at birth or acquired at any time afterwards. [6] [7] Hearing loss may occur in one or both ears. [2] In children, hearing problems can affect the ability to acquire spoken language, and in adults it can create difficulties with social interaction and at work. [8]
Nonsyndromic deafness is characterized by a partial or total sensorineural hearing loss (SNHL) of variable onset and severity that is not associated with other signs and symptoms. [8] Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear.
Mutations in the gene encoding otoferlin are a cause of a neurosensory nonsyndromic recessive deafness, DFNB9.The diagnosis is identified by molecular genetic testing.. In October 2023 two small clinical trials for a gene therapy restoring the defective Otoferlin via an adeno-associated virus (AAVs) have been announced.
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