Usher Syndrome, Type IIA

Alternative Names

  • USH2A

Associated Genes

USH2A gene
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

276901

Mode of Inheritance

Autosomal recessive with genetic heterogeneity

Gene Map Locus

1q41

Description

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
276901.1LebanonMaleYesYes Progressive visual loss; Bilateral senso...NM_206933.2:c.11907delHomozygousAutosomal, RecessiveReddy et al. 2014 The patient had 2 si...
276901.2LebanonMaleYesYes Progressive visual loss; Bilateral senso...NM_206933.4:c.532dupHomozygousAutosomal, RecessiveReddy et al. 2014
276901.3LebanonMaleYesYes Progressive visual loss; Bilateral senso...NM_206933.4:c.14031dupHomozygousAutosomal, RecessiveReddy et al. 2014 The patient had 2 si...
276901.4LebanonMaleNoNo Progressive visual loss; Bilateral senso...NM_206933.4:c.14424C>A, NM_206933.2:c.4707T>GHeterozygousAutosomal, RecessiveReddy et al. 2014
276901.5JordanFemaleYesYes Progressive visual loss; Bilateral senso...NM_206933.4:c.8681G>AHomozygousAutosomal, RecessiveReddy et al. 2014 The patient's father...
276901.G.1Saudi ArabiaUnknownYesYes Visual impairment; Hearing impairmentNM_206933.4:c.486-1G>CHomozygousAutosomal, RecessivePatel et al, 2018 4 members of a famil...
276901.G.2United Arab EmiratesUnknown Congenital sensorineural hearing impairm...NM_206933.4:c.9860_9873delHomozygousAutosomal, RecessiveElsayed O and Al-Shamsi A. 2022 Two individuals with...

Other Reports

Lebanon

Saouda et al. (1998) conducted segregation analysis on five Lebanese families affected with Usher Syndrome. They were able to narrow the USH2 locus to an interval between D1S2646/D1S2629 and D1S2827. 

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