Usher syndrome

(redirected from Usher syndromes)
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Ush·er syn·drome

(ŭsh'ĕr), [MIM*276900, MIM*276901]
autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa.

Ush·er syn·drome

(ŭsh'ĕr), [MIM*276900, MIM*276901]
autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa.

Usher syndrome

(ŭsh′ər)
n.
An autosomal recessive condition characterized by sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa.

Usher syndrome

A genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness; the clinical forms—USH1, USH2 and USH3—are distinguished based on age at onset and differences in auditory and vestibular function.

USH1 is characterised by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. USH1D/F (OMIM:601067) patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance.

Molecular pathology
Defects of CDH23 cause Usher syndrome types 1D and 1D/F.

Usher syndrome

An AR condition characterized by retinitis pigmentosa–RP and sensorineural deafness

Ush·er syn·drome

(ŭsh'ĕr sin'drōm)
Autosomal recessive inheritance with genetic heterogeneity; the three forms are distinguishable by linkage data: Type 1 causes sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; types 2 and 3 are characterized by hearing loss and retinitis pigmentosa.

Usher,

Charles Howard, English ophthalmologist, 1865-1942.
Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.
References in periodicals archive ?
Tightly linked flanking microsatellite markers for the Usher syndrome Type I locus on the short arm of chromosome 11.
Linkage studies of the Usher syndrome type I: Exclusion results from the Usher syndrome consortium.
Localization of Usher syndrome type II to chromosome 1q.
Genetic heterogeneity of Usher syndrome type 1 in French families.
Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.
Usher syndrome type IC: clinical findings and fine-mapping of the disease locus.
Predicting the age of mutation for Usher syndrome type 1 in the Acadian population.
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
Exclusion of Usher syndrome gene from much of chromosome 4.
Localization of two genes for Usher syndrome type I to chromosome 11.
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.