An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018).

Five individuals in three Yemenite Jewish families have been described with this type of Usher syndrome. A neurosensory hearing loss is present by midlife but no other systemic signs have been reported. Homozygosity of a missense mutation in the ARSG gene (17q24.2) is responsible for this condition.

Aug 17, 2023 · An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018).

Keywords: Arylsulfatase G, ARSG, Usher syndrome, Usher syndrome type 4, USH4, atypical Usher syndrome, retinitis pigmentosa, RP. Introduction: Usher syndrome (USH) is a group of ciliopathies characterized clinically by retinitis pigmentosa (RP) …

An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018).

Feb 28, 2022 · Previously, three types of Usher syndrome (USH), were defined based on the age of onset and severity of the clinical symptoms. The three types (USH1, USH2, USH3) are further sub-typed by genetic testing, which is indicated by a letter after the number.

Five individuals in three Yemenite Jewish families have been described with this type of Usher syndrome. A neurosensory hearing loss is present by midlife but no other systemic signs have been reported. Homozygosity of a missense mutation in the ARSG gene (17q24.2) is responsible for this condition.

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor.

Usher syndrome is categorized into four subtypes (USH1, USH2, USH3, USH4) on the basis of phenotypic spectrum. Profound hearing loss (HL), vestibular are flexia and language disturbance are typically associated with Usher type 1, while USH2 …

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on …