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遗传性耳聋-视网膜色素变性综合征的基因定位

Gene mapping of the Usher syndromes.

作者信息

Kimberling W, Smith R J

机构信息

Boys Town National Research Hospital, Omaha, Nebraska.

出版信息

Otolaryngol Clin North Am. 1992 Oct;25(5):923-34.

PMID:1408196
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.

摘要

Usher综合征(USH)是一组常染色体隐性疾病,其特征是由于视网膜色素变性(RP)导致听力障碍和视力丧失。已知USH有两种常见类型,即I型和II型。I型USH的特征是先天性重度至极重度听力障碍、前庭功能缺失以及进行性色素性视网膜病变。I型患者使用助听器无效,运动发育迟缓,会逐渐出现夜盲和周边视力丧失,通常始于第二个十年。II型USH的特征是先天性中度至重度听力损失,听力图呈下坡型,前庭功能正常,以及进行性色素性视网膜病变。II型USH患者使用助听器有益,精神运动发育正常,会逐渐出现夜盲和周边视力丧失,通常始于第三个十年。前庭功能障碍是区分I型和II型USH的最佳标志性特征。一个II型USH基因(称为USH2)已被定位到1号染色体长臂。一个I型USH基因已初步定位到14号染色体长臂。还有其他USH基因尚未定位。

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