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- Title
Genetics of Hearing Impairment.
- Authors
Kremer, Hannie; del Castillo, Ignacio
- Abstract
Although the seizure phenotype was recapitulated in mice with compound heterozygous truncating variants of this gene, none of the models displayed a hearing loss phenotype. For genes that can cause syndromic as well as non-syndromic hearing loss when defective, it is even more important to understand the genotype-phenotype correlations. Two articles in this issue report novel cases with pathogenic variants in genes involved in Perrault syndrome, a disorder associating hearing loss with ovarian dysgenesis. In contrast to many of the studies in this Special Issue which address monogenic forms of non-syndromic hearing loss, the article by Escalera-Balsera et al. addresses a genetically more complex type of hearing loss, i.e., familial Meniere disease (FMD) (episodic vertigo associated with sensorineural hearing loss) [[17]].
- Subjects
HEARING disorders; GENETICS; RECESSIVE genes; INNER ear; EAR; AUDITORY processing disorder; SENSORINEURAL hearing loss; AUDITORY neuropathy
- Publication
Genes, 2022, Vol 13, Issue 5, p852
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13050852