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Article
Open AccessUsher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heteroge...
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Article
Open AccessScrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two a...
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Article
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
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Article
Open AccessExploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gen...
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Article
Open AccessDe novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
ATP2B2 encodes the PMCA2 Ca2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca2+ from the stereocilia to the endolymph. Several mouse models have been...
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Article
Open AccessHeterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two familie...
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Article
Open AccessGenotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families by focusing on the...
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Article
Open AccessGipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive ...
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Article
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Hannie Kremer and colleagues report the identification of mutations in LROMT associated with profound nonsyndromic hearing loss. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOM...
