학술논문
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Document Type
Article
Author
Jonard, Laurence; Brotto, Davide; Moreno-Pelayo, Miguel A.; del Castillo, Ignacio; Kremer, Hannie; Pennings, Ronald; Caria, Helena; Fialho, Graça; Boudewyns, An; Van Camp, Guy; Ołdak, Monika; Oziębło, Dominika; Deggouj, Naïma; De Siati, Romolo Daniele; Gasparini, Paolo; Girotto, Giorgia; Verstreken, Margriet; Dossena, Silvia; Roesch, Sebastian; Battelino, Saba
Source
Subject
*HEARING disorders
*AUDITORY neuropathy
*CONDUCTIVE hearing loss
*SENSORINEURAL hearing loss
*INNER ear physiology
*CONGENITAL disorders
*NUCLEOTIDE sequencing
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Language
ISSN
2039-4349
Abstract
The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc.), genetic or both. If the deficit is not immediately profound, it can progress over time in about 20% of cases; - The search for STRC pathogenic variations or alterations at the DFN16 locus: the phenotype is the same as the previous except that the hearing loss is mild or moderate without evolution over time [[10]]; - The search for SLC26A4 pathogenic variations: hearing impairment is often prelingual, immediately or rapidly bilateral, sometimes asymmetrical, fluctuating and often progressive [[6]]. References 1 Toriello H.V., Smith S.D. Hereditary Hearing Loss and Its Syndromes3rd ed.; Oxford University Press: Oxford, UK. 2013 2 Hereditary Hearing LossAvailable online: https://hereditaryhearingloss.org/(accessed on 16 November 2022) 3 Goderis J., De Leenheer E., Smets K., Van Hoecke H., Keymeulen A., Dhooge I. Hearing loss and congenital CMV infection: A systematic review. Regarding hearing impairment, genetic evaluation is rarely motivated by a request for genetic counseling in terms of prenatal diagnosis or preimplantation diagnosis. [Extracted from the article]