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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

机译：应用基因分型微阵列对常染色体隐性遗传性视网膜色素变性的272个西班牙家庭进行突变分析

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PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. METHODS: 272 unrelated Spanish families, 107 with autosomal recessive RP (arRP) and 165 with sporadic RP (sRP), were studied using the APEX genotyping microarray. The families were also classified by clinical criteria: 86 juveniles and 186 typical RP families. Haplotype and sequence analysis were performed to identify the second mutated allele. RESULTS: At least one-gene variant was found in 14% and 16% of the juvenile and typical RP groups respectively. Further study identified four new mutations, providing both causative changes in 11% of the families. Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. The only variant found in CERKL was p.Arg257Stop, the most frequent mutation. CONCLUSIONS: The genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families. Due to the low number of characterized families, this approach should be used in tandem with other techniques.
机译：目的：色素性视网膜炎（RP）是一种遗传异质性疾病，其特征在于进行性视力下降。这项研究的目的是使用基因分型微阵列鉴定272个西班牙家庭中的致病性突变。方法：使用APEX基因分型芯片对272个无关的西班牙家庭，107个常染色体隐性RP（arRP）和165个散发性RP（sRP）进行了研究。这些家庭还按临床标准分类：86个少年和186个典型的RP家庭。进行单倍型和序列分析以鉴定第二个突变的等位基因。结果：分别在14％和16％的青少年和典型RP组中发现至少一个基因变异。进一步的研究确定了四个新的突变，在11％的家庭中都提供了致病性变化。在青少年RP组中，视黄醇脱氢酶12（RDH12）是最常见的突变基因，而在典型RP组中，Usher综合征2A（USH2A）和神经酰胺激酶样（CERKL）是最常见的突变基因。在CERKL中发现的唯一变异是p.Arg257Stop，这是最常见的突变。结论：基因分型微阵列与分离和序列分析相结合，使我们能够鉴定11％的家庭中的致病性突变。由于特征族的数量少，因此该方法应与其他技术结合使用。

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