Epidemiology of Usher syndrome in Valencia and Spain.
Epidemiology of Usher syndrome in Valencia and Spain.
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DOI：
10.1159/000016167
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发表时间：
1998-01-01
期刊：
影响因子：
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通讯作者：
Najera, C
中科院分区：
文献类型：
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作者：
Espinos, C;Millan, J M;Najera, C
目的：获得西班牙不同类型Usher综合征（美国）患病率的流行病学数据，因为这些数据缺失;估计单纯性家庭中散发病例的比例，并计算西班牙东部同质人群中Usher综合征的患病率（3，875，234居民），这是西班牙人口的代表。对来自46个家庭的89名美国患者进行了耳科、眼科和遗传学研究，并进行了统计和分离分析。US I型占41.6%，II型占46.1%，分型不明占12.3%。瓦伦西亚省的估计流行率为4.2/100 000。有一个显着过剩的男性只受影响的多重sibships在我们的样本中，可以归因于一个X-连锁inheritance.CONCLUSIONS：USI型的家庭的数量与USII型的家庭是相似的。瓦伦西亚省的估计患病率与其他报告一致，其中US患病率的估计范围为1.8 - 6.2/100，000。
OBJECTIVE: To obtain epidemiological data on the prevalence of the different types of Usher syndrome (US) in Spain, since these data were missing; to estimate the proportion of sporadic cases among simplex families, and calculate the prevalence of the Usher syndrome in a homogeneous population from Eastern Spain (3,875,234 inhabitants) that is representative of the Spanish population.METHODS: Otological, ophthalmological and genetic studies were performed in 89 US patients from 46 families and subjected to statistical and segregation analysis.RESULTS: 41.6% of them suffered US type I, 46.1% type II, and in 12.3% the classification remains unclear. The estimated prevalence for the Province of Valencia was 4.2/100,000. There was a notable excess of male-only affected multiplex sibships in our sample that could be attributable to an X-linked inheritance.CONCLUSIONS: The number of families with USI type was similar to that of families with USII type. The estimated prevalence for the Province of Valencia is in agreement with other reports in which the estimate for the prevalence of US ranges from 1.8 to 6.2/100,000.