Atypical and ultra-rare Usher syndrome: a review.
Atypical and ultra-rare Usher syndrome: a review.
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DOI：
10.1080/13816810.2020.1747090
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发表时间：
2020-10
影响因子：
1.2
通讯作者：
Zein WM
中科院分区：
文献类型：
--
作者：
Nolen RM;Hufnagel RB;Friedman TB;Turriff AE;Brewer CC;Zalewski CK;King KA;Wafa TT;Griffith AJ;Brooks BP;Zein WM
Usher综合征通常被描述为听力损失和视杆-视锥营养不良的组合;许多患者存在前庭功能障碍。在20世纪70年代末记录了三种不同的临床亚型。基因分型的努力已经导致与疾病相关的几个基因的鉴定。最近的文献中有多篇出版物提到“非典型”Usher综合征表现。这篇文章回顾了Usher综合征的分子病因学，强调了罕见的表现和分子原因。总结了“非典型”疾病的报告，指出表型偏离谱与经典表现存在很大差异。建立一个明确的命名系统的指导方针的建议。
Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to “atypical” Usher syndrome presentations. This manuscript reviews the molecular etiology of Usher syndrome, highlighting rare presentations and molecular causes. Reports of “atypical” disease are summarized noting the wide discrepancy in the spectrum of phenotypic deviations from the classical presentation. Guidelines for establishing a clear nomenclature system are suggested.
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影响因子：
5.2
作者：
Aller, E;Nájera, C;Beneyto, M
通讯作者：
Beneyto, M
影响因子：
3.4
作者：
Bharadwaj, AK;Kasztejna, JP;Dryja, TP
通讯作者：
Dryja, TP
影响因子：
3.5
作者：
Alagramam, KN;Yuan, HJ;Smith, RJH
通讯作者：
Smith, RJH
影响因子：
3.7
作者：
Bonnet C;Grati M;Marlin S;Levilliers J;Hardelin JP;Parodi M;Niasme-Grare M;Zelenika D;Délépine M;Feldmann D;Jonard L;El-Amraoui A;Weil D;Delobel B;Vincent C;Dollfus H;Eliot MM;David A;Calais C;Vigneron J;Montaut-Verient B;Bonneau D;Dubin J;Thauvin C;Duvillard A;Francannet C;Mom T;Lacombe D;Duriez F;Drouin-Garraud V;Thuillier-Obstoy MF;Sigaudy S;Frances AM;Collignon P;Challe G;Couderc R;Lathrop M;Sahel JA;Weissenbach J;Petit C;Denoyelle F
通讯作者：
Denoyelle F
影响因子：
64.8
作者：
Andersen, JS;Wilkinson, CJ;Mann, M
通讯作者：
Mann, M