Abstract
Since a correlation between the peripheral auditory and vestibular systems has been identified both anatomically and phylogenetically, a subgroup of children with congenital deafness may be associated with vestibular and balance impairments. The vestibular disturbance in these children gradually disappears as they grow up, probably because of a compensatory mechanism of the central nervous system.
Congenital vestibular failure is found in 10–20 % of infants with congenital deafness. Gene mutation which causes congenital deafness has been reported to be of various types such as GJB2, PDS, Mitochondria 1555, and OTOF.
Gene mutations of vestibular end organs are not well investigated.
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References
Usami S (2002) Gene responsible for deafness. Adv Neurolog Sci 242:102–109
Kasai M, Hayaashi C, Iizuka T, Inoshita A, Kamiya K, Okada H, Nakajima Y, Kaga K, Ikeda K (2010) Vestibular function of patients with profound deafness related to GJB2 mutation. Acta Otolaryngol 130:990–995
Masuda M, Usami S, Yamazaki K, Takumi Y, Shinkawa H, Kurashima K, Kunihiro T, Kanzaki J (2001) Connexin 26 distribution in gap junctions between melanocytes in the human vestibular dark cell area. Anat Rec 22:137–146
Wangemann P (2002) K (+) cycling and its regulation in the cochlea and the vestibular labyrinth. Audio Neurootol 7:199–205
Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ (2005) SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 42:159–165
Yamasoba T, Oka Y, Tsukuda K, Nakamura M, Kaga K (1996) Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNALEU(UUR) gene. Laryngoscope 16(1):49–53
Kaga K, Nakamura M, Shinogami M, Tsuzuku T, Yamada K, Shindo M (1996) Auditory nerve disease of both ears revealed by auditory brainstem responses, electrocochleography and otoacoustic emissions. Scand Audiol 25:233–238
Starr A, Picton TW, Sininger Y et al (1996) Auditory neuropathy. Brain 119:741–753
Northern J (ed) (2008) Guidelines for identification and management of infants and young children with auditory neuropathy spectrum disorder. The Children’s Hospital, Colorado
Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K (2012) A prevalent founder mutation and genotype–phenotype correlations of OTOF in Japanese patients with auditory neuropathy. Clin Genet 82:425–432
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Kaga, K. (2014). Gene Mutation in Congenital Deafness and Vestibular Failure. In: Vertigo and Balance Disorders in Children. Modern Otology and Neurotology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-54761-7_7
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DOI: https://doi.org/10.1007/978-4-431-54761-7_7
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