Literature DB >> 1408196

Gene mapping of the Usher syndromes.

W Kimberling1, R J Smith.   

Abstract

USH is an autosomal recessive group of diseases characterized by auditory impairment and visual loss owing to RP. Two common types of USH are known, types I and II. USH type I is characterized by a congenital severe to profound hearing impairment, absent vestibular function, and a progressive pigmentary retinopathy. Persons with type I do not find hearing aids useful, have delayed motor development, and experience progressive night blindness and peripheral visual loss, which usually begins in their second decade. USH type II is characterized by a congenital moderate to severe hearing loss with a down-sloping audiogram, normal vestibular function, and a progressive pigmentary retinopathy. Persons with USH2 find hearing aids beneficial, have normal psychomotor development, and experience progressive night blindness and peripheral visual loss, which usually begins in their third decade. Vestibular dysfunction is the best distinguishing hallmark to differentiate USH type I from type II. One USH type II gene (called USH2) has been assigned to chromosome 1q. One USH type I gene has been tentatively assigned to chromosome 14q. There are other USH genes that have not yet been localized.

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Year:  1992        PMID: 1408196

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN: 0030-6665            Impact factor:   3.346


  2 in total

1.  Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Authors:  M D Weston; J D Eudy; S Fujita; S Yao; S Usami; C Cremers; J Greenberg; R Ramesar; A Martini; C Moller; R J Smith; J Sumegi; W J Kimberling; J Greenburg
Journal:  Am J Hum Genet       Date:  2000-03-22       Impact factor: 11.025

Review 2.  Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Authors:  Meg Whatley; Abbie Francis; Zi Ying Ng; Xin Ee Khoh; Marcus D Atlas; Rodney J Dilley; Elaine Y M Wong
Journal:  Front Genet       Date:  2020-10-22       Impact factor: 4.599

  2 in total

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