title: Vestibular function in families with inherited autosomal dominant hearing loss.
abstract: The inner ear contains the developmentally related cochlea and peripheral vestibular labyrinth. Given the similar physiology between these two organs, hearing loss and vestibular dysfunction may be expected to occur simultaneously in individuals segregating mutations in inner ear genes. Twenty-two different genes have been discovered that when mutated lead to non-syndromic autosomal dominant hearing loss. A review of the literature indicates that families segregating mutations in 13 of these 22 genes have undergone formal clinical vestibular testing. Formal assessment revealed vestibular dysfunction in families with mutations in ten of these 13 genes. Remarkably, only families with mutations in the COCH and MYO7A genes self-report considerable vestibular challenges. Families segregating mutations in the other eight genes do not self-report significant balance problems and appear to compensate well in everyday life for vestibular deficits discovered during formal clinical vestibular assessment. An example of a family (referred to as the HL1 family) with progressive hearing loss and clinically-detected vestibular hypofunction that does not report vestibular symptoms is described in this review. Notably, one member of the HL1 family with clinically-detected vestibular hypofunction reached the summit of Mount Kilimanjaro.
authors.affiliation: V.M. Bloedel Hearing Research Center, Otolaryngology - HNS Department, University of Washington, Seattle, WA 98195-5060, USA. vastreet@u.washington.edu
authors.forename: Valerie A
authors.initials: VA
authors.lastname: Street
authors.forename: Jeremy C
authors.initials: JC
authors.lastname: Kallman
authors.forename: Paul D
authors.initials: PD
authors.lastname: Strombom
authors.forename: Naomi F
authors.initials: NF
authors.lastname: Bramhall
authors.forename: James O
authors.initials: JO
authors.lastname: Phillips
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004398:Dyneins / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D034381:Hearing Loss / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D012027:Reflex, Vestibulo-Ocular / Q000235:genetics*; D015837:Vestibular Diseases / Q000150:complications* / Q000235:genetics; D014724:Vestibular Function Tests; D014722:Vestibule, Labyrinth / Q000502:physiology*
chemical_list: C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D011506:Proteins; D009218:Myosins; D004398:Dyneins
references.citation: Otol Neurotol. 2005 Sep;26(5):926-33
references.pmid: 16151339
references.citation: Audiol Neurootol. 2004 Jan-Feb;9(1):34-46
references.pmid: 14676472
references.citation: Biochem Biophys Res Commun. 2005 Nov 25;337(3):799-805
references.pmid: 16226720
references.citation: Audiol Neurootol. 2006;11(3):157-64
references.pmid: 16449806
references.citation: Hum Mol Genet. 1999 Feb;8(2):361-6
references.pmid: 9931344
references.citation: Laryngoscope. 2000 Aug;110(8):1379-84
references.pmid: 10942145
references.citation: Ear Hear. 2001 Aug;22(4):279-88
references.pmid: 11527035
references.citation: Am J Hum Genet. 2003 Jan;72(1):73-82
references.pmid: 12471561
references.citation: Arch Otolaryngol Head Neck Surg. 2002 Aug;128(8):913-7
references.pmid: 12162770
references.citation: Arch Otolaryngol Head Neck Surg. 1997 Jun;123(6):573-7
references.pmid: 9193215
references.citation: Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):201-6
references.pmid: 16043233
references.citation: Hum Mutat. 2004 Sep;24(3):274-5
references.pmid: 15300860
references.citation: Audiology. 1999 May-Jun;38(3):165-73
references.pmid: 10437687
references.citation: Ann Otol Rhinol Laryngol. 2002 Mar;111(3 Pt 1):267-74
references.pmid: 11915881
references.citation: Audiol Neurootol. 2007;12(2):77-84
references.pmid: 17264471
references.citation: Laryngoscope. 2002 Feb;112(2):292-7
references.pmid: 11889386
references.citation: J Hum Genet. 2001;46(7):355-61
references.pmid: 11450843
references.citation: Am J Hum Genet. 2004 Apr;74(4):770-6
references.pmid: 15015131
references.citation: Arch Otolaryngol. 1968 Sep;88(3):242-50
references.pmid: 5663381
references.citation: Adv Otorhinolaryngol. 2002;61:53-9
references.pmid: 12408063
references.citation: Am J Med Genet A. 2005 Dec 1;139A(2):86-95
references.pmid: 16261627
references.citation: Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57
references.pmid: 17561763
references.citation: J Med Genet. 2004 Jan;41(1):e9
references.pmid: 14729849
references.citation: Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):421-6
references.pmid: 12707188
references.citation: Arch Otolaryngol Head Neck Surg. 1998 Jun;124(6):699-702
references.pmid: 9639482
references.citation: Arch Otolaryngol Head Neck Surg. 2004 Mar;130(3):281-8
references.pmid: 15023833
references.citation: J Med Genet. 2006 Feb;43(2):157-61
references.pmid: 15930085
references.citation: Otol Neurotol. 2006 Apr;27(3):323-31
references.pmid: 16639269
references.citation: Eur J Hum Genet. 2003 Oct;11(10):744-8
references.pmid: 14512963
references.citation: Neuroreport. 2005 Aug 1;16(11):1179-81
references.pmid: 16012344
references.citation: J Assoc Res Otolaryngol. 2006 Jun;7(2):173-81
references.pmid: 16718611
references.citation: Eur J Hum Genet. 2002 Feb;10(2):95-9
references.pmid: 11938438
references.citation: Am J Otol. 2000 Mar;21(2):181-7
references.pmid: 10733181