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Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. ...X-linked hearing loss and maternally-inherited NSHI have minor contributions in most countries. ...
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. ...X-linked h …
Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss.
Azadegan-Dehkordi F, Ahmadi R, Koohiyan M, Hashemzadeh-Chaleshtori M. Azadegan-Dehkordi F, et al. Ann Hum Genet. 2019 Jan;83(1):1-10. doi: 10.1111/ahg.12284. Epub 2018 Sep 3. Ann Hum Genet. 2019. PMID: 30175840 Review.
Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyn …
Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated w …
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F. Koohiyan M, et al. Ann Hum Genet. 2020 Mar;84(2):107-113. doi: 10.1111/ahg.12354. Epub 2019 Sep 11. Ann Hum Genet. 2020. PMID: 31512227 Review.
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. ...
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
Hearing loss is one of the most frequent disabilities that affect human senses. ...Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturation of the stereocilia. To date, mutations d …
Hearing loss is one of the most frequent disabilities that affect human senses. ...Calcium signaling pathway is crucial for si …
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. ...They range from lesions of single tissues or s …
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessi …
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA, Rankin WA, Kurmis AP. Apps SA, et al. Int J Audiol. 2007 Feb;46(2):75-81. doi: 10.1080/14992020600582190. Int J Audiol. 2007. PMID: 17365058 Review.
A family of autosomal gene mutations has been identified that lead to abnormal connexin expression within the inner ear that are associated with hearing loss. ...We aim to highlight the clinically underestimated prevalence of GJB2 gene mutations, to explore t …
A family of autosomal gene mutations has been identified that lead to abnormal connexin expression within the inner ear that are asso …
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC. Skvorak Giersch AB, et al. Curr Opin Pediatr. 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. Curr Opin Pediatr. 1999. PMID: 10590915 Review.
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. ...Mutations in one gene, connexin 26 (encoding the ga …
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness h …
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. ...The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for mo …
With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. ...The most frequen …
A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures.
Rastad H, Samimisedeh P, Savad S, Seifi Alan M. Rastad H, et al. Ann Otol Rhinol Laryngol. 2023 Nov;132(11):1493-1495. doi: 10.1177/00034894231161866. Epub 2023 Apr 3. Ann Otol Rhinol Laryngol. 2023. PMID: 37009772 Review.
BACKGROUND: About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heterogeneity. ...
BACKGROUND: About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-sy …