Usher Syndrome, Type IC

Alternative Names

  • USH1C
  • Usher Syndrome, Type I, Acadian Variety
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

276904

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11p15.1

Description

Usher syndrome is a rare autosomal recessive genetic disorder characterized by the association of sensorineural deafness with retinitis pigmentosa and progressive vision loss.  Prevalence is estimated at 1 in 6,000 to 20,000 worldwide.  About 50% of all people who are deaf/blind have Usher syndrome.  Clinically, Usher syndrome has three clinical subtypes, namely USH1, USH2 and USH3.  Type 1 accounts for about 40% of cases, in which hearing loss is congenital, profound, nonprogressive, and typically associated with delayed development in motor skills, vestibular problems, and early onset of vision loss due to retinitis pigmentosa.There are seven distinct subtypes for USH1 from IA to IG.  Clinical diagnosis for type 1 is based on findings of bilateral sensorineural hearing loss symmetric, congenital and profound.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
276904.1.1LebanonFemaleYesYes Profound hearing impairment; BlindnessNM_001297764.2:c.497-2delHomozygousAutosomal, RecessiveVerpy et al, 2000; Saouda et al. 1998
276904.1.2LebanonFemaleYesYes Profound hearing impairment; BlindnessNM_001297764.2:c.497-2delHomozygousAutosomal, RecessiveVerpy et al, 2000 Sister of 276904.1.1
276904.1.3LebanonMaleYesYes Profound hearing impairment; BlindnessNM_001297764.2:c.497-2delHomozygousAutosomal, RecessiveVerpy et al, 2000 Brother of 276904.1....

Other Reports

Kuwait

See: [Saudi Arabia>Al Mutair et al, 2013]

Saudi Arabia

Al Mutair et al, 2013, described 15 patients from eight unrelated consanguineous families from Saudi Arabia and Kuwait with congenital hyperinsulinism and deafness.  They analyzed the USH1C, ABCC8, and KCNJ11 genes for the 15 patients.  Fourteen of the patients had severe CHI with the need of subtotal pancreatectomy.  All patients, except one who died early, were diagnosed with profound hearing loss with absent brain stem auditory-evoked response.  A homozygous a 122.815-base pair deletion of USH1C exon 3–28 and ABCC8 exon 1–22, USH1C:c.(90+592)_ABCC8: c.(2694–528)del was found in all 10 patients with available DNA. 

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