Open AccessEstablishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation
Author(s) -
Leslie P Molina-Ramírez,
Eva Lenassi,
Jamie M Ellingford,
Panagiotis I. Sergouniotis,
Simon Ramsden,
Iain Bruce,
Graeme C M Black
Publication year - 2020
Publication title -
otology and neurotology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.147
H-Index - 104
eISSN - 1537-4505
pISSN - 1531-7129
DOI - 10.1097/mao.0000000000002588
Subject(s) - usher syndrome , allele , genotype , genetics , correlation , phenotype , medicine , disease , hearing loss , genetic testing , biology , retinitis pigmentosa , audiology , gene , pathology , geometry , mathematics
USH2A-related disorders are characterised by genetic and phenotypic heterogeneity, and are associated with a spectrum of sensory deficits, ranging from deaf blindness to blindness with normal hearing. It has been previously proposed that the presence of specific USH2A alleles can be predictive of unaffected hearing. This study reports the clinical and genetic findings in a group of patients with USH2A-related disease and evaluates the validity of the allelic hierarchy model.