Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
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DOI：
10.1001/jamaophthalmol.2014.4498
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发表时间：
2015-02-01
影响因子：
8.1
通讯作者：
Ayuso, Carmen
中科院分区：
文献类型：
--
作者：
Blanco-Kelly, Fiona;Jaijo, Teresa;Ayuso, Carmen
重要性需要一种新的统计方法来描述I型和II型Usher综合征之间以及USH 2A基因中两种最常见突变之间的临床差异。和参与者在遗传科进行的横断面研究，其中对433名患者进行了临床评价（297个不相关的家庭），根据他们的临床病史、家系资料、眼科研究结果和听力学、神经生理学，和前庭测试结果对304例患者（256个无关家族）进行了分子研究。Mann-Whitney U检验或卡方（2）检验用于计算所分析参数的平均值之间的差异。主要结果和测量诊断时的年龄;夜盲、视野丧失、视力丧失和白内障的发病年龄;结果I型Usher综合征与II型Usher综合征比较，P <0.05，差异有统计学意义（P <0.05）。0.001对于分析的大多数项目。USH 2A基因中最常见的突变是p.Glu767Serfs * 21和p.Cys759Phe突变，等位基因频率分别为23.2%（272个等位基因中的63个）和8.1%（272个等位基因中的22个）。携带p.Cys759Phe的患者的表型分析显示，P
IMPORTANCE A new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene.OBJECTIVES To describe the primary phenotypic characteristics and differences between type I and type II Usher syndrome and to establish a phenotype-genotype correlation for the 2 most frequent mutations in the USH2A gene.DESIGN, SETTING, AND PARTICIPANTS Cross-sectional study at a genetics department, in which clinical evaluations were performed for 433 patients (297 unrelated families) who were classified as having type I, II, III, atypical, or unclassified Usher syndrome according to their clinical history, pedigree data, results from ophthalmological studies, and audiological, neurophysiological, and vestibular test results. Molecular studies were performed for 304 patients (256 unrelated families). The Mann-Whitney U test or the chi(2) test was used for calculating the differences between mean values for the analyzed parameters.MAIN OUTCOMES AND MEASURES Age at diagnosis; age at onset of night blindness, visual field loss, visual acuity loss, and cataracts; and severity and age at diagnosis of hearing loss.RESULTS The comparison between patients with type I Usher syndrome and those with type II Usher syndrome revealed P < .001 for most items analyzed. The most frequent mutations in the USH2A gene were the p. Glu767Serfs* 21 and p. Cys759Phe mutations, with an allelic frequency of 23.2%(63 of 272 alleles) and 8.1% (22 of 272 alleles), respectively. The phenotypic analysis for patients carrying p. Cys759Phe showed P