Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
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ABSTRACT:
SUBMITTER: Hufnagel RB
PROVIDER: S-EPMC9018588 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
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Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel Robert B RB Liang Wendi W Duncan Jacque L JL Brewer Carmen C CC Audo Isabelle I Ayala Allison R AR Branham Kari K Cheetham Janet K JK Daiger Stephen P SP Durham Todd A TA Guan Bin B Heon Elise E Hoyng Carel B CB Iannaccone Alessandro A Kay Christine N CN Michaelides Michel M Pennesi Mark E ME Singh Mandeep S MS Ullah Ehsan E
Human mutation 20220321 5
We assessed genotype-phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47) due to USH2A variants, using clinical data and molecular diagnostics from the Rate of Progression in USH2A Related Retinal Degeneration (RUSH2A) study. USH2A truncating alleles were associated with USH2 and had a dose-dependent effect on hearing loss severity with no effect ...[more]
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