Deafness, autosomal recessive

Definition:

Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal- dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is conductive (external and/or middle ear developmental defects) or mixed.

References:

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[43]. Mirna Mustapha, et al. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet. 2002 Mar;10(3):210-2. [Content Brief]

[44]. N Liburd, et al. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001 Nov;109(5):535-41. [Content Brief]

[45]. Neil J Ingham, et al. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS Biol. 2019 Apr 11;17(4):e3000194. [Content Brief]

[46]. Nicolas Grillet, et al. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet. 2009 Sep;85(3):328-37. [Content Brief]

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[48]. Oscar Diaz-Horta, et al. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. [Content Brief]

[49]. Oscar Diaz-Horta, et al. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. [Content Brief]

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[54]. Rizwan Yousaf, et al. Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS Genet. 2018 Mar 28;14(3):e1007297. [Content Brief]

[55]. Rob W J Collin, et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 2008 Jan;82(1):125-38. [Content Brief]

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[57]. S Riazuddin, et al. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet. 2000 Dec;26(4):431-4. [Content Brief]

[58]. S Yasunaga, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999 Apr;21(4):363-9. [Content Brief]

[59]. Sadaf Naz, et al. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet. 2002 Sep;71(3):632-6. [Content Brief]

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[62]. Saima Riazuddin, et al. Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet. 2006 Dec;79(6):1040-51. [Content Brief]

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[64]. Sedigheh Delmaghani, et al. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. [Content Brief]

[65]. Sedigheh Delmaghani, et al. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. [Content Brief]

[66]. Sedigheh Delmaghani, et al. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet. 2006 Jul;38(7):770-8. [Content Brief]

[67]. Shahid Y Khan, et al. Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat. 2007 May;28(5):417-23. [Content Brief]

[68]. Simon von Ameln, et al. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet. 2012 Nov 2;91(5):919-27. [Content Brief]

[69]. Tao Yang, et al. Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet. 2009 May;84(5):651-7. [Content Brief]

[70]. Tao Yang, et al. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 2007 Jun;80(6):1055-63. [Content Brief]

[71]. Thomas J Jaworek, et al. An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLoS Genet. 2013;9(9):e1003774. [Content Brief]

[72]. Tom Walsh, et al. From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7518-23. [Content Brief]

[73]. Tom Walsh, et al. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet. 2010 Jul 9;87(1):90-4. [Content Brief]

[74]. W Chen, et al. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 Oct;42(10):e61. [Content Brief]

[75]. X C Li, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. [Content Brief]

[76]. X Z Liu, et al. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet. 2000 Jan 1;9(1):63-7. [Content Brief]

[77]. X Z Liu, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997 Jun;16(2):188-90. [Content Brief]

[78]. Xiao Mei Ouyang, et al. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet. 2002 Jul;111(1):26-30. [Content Brief]

[79]. Yun Li, et al. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 2010 Mar 12;86(3):479-84. [Content Brief]

[80]. Zubair M Ahmed, et al. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet. 2011 Jan 7;88(1):19-29. [Content Brief]

[81]. Zubair M Ahmed, et al. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet. 2008 Nov;40(11):1335-40. [Content Brief]

[82]. Zubair M Ahmed, et al. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet. 2003 May;72(5):1315-22. [Content Brief]

[83]. Zubair M Ahmed, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003 Dec 15;12(24):3215-23. [Content Brief]

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