Genetics of Inner Ear Malformations: A Review.
cochlear aplasia
cochlear hypoplasia
common cavity
complete labyrinthine aplasia
genetics
hearing loss
incomplete partition
inner ear malformations
posterior labyrinth
Journal
Audiology research
ISSN: 2039-4330
Titre abrégé: Audiol Res
Pays: Switzerland
ID NLM: 101644681
Informations de publication
Date de publication:
12 Oct 2021
12 Oct 2021
Historique:
received:
14
09
2021
revised:
04
10
2021
accepted:
08
10
2021
entrez:
26
10
2021
pubmed:
27
10
2021
medline:
27
10
2021
Statut:
epublish
Résumé
Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations.
Identifiants
pubmed: 34698066
pii: audiolres11040047
doi: 10.3390/audiolres11040047
pmc: PMC8544219
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
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