Delineation of Cohen syndrome following a large-scale genotype-phenotype screen
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen
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DOI：
10.1086/422197
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发表时间：
2004-07-01
影响因子：
9.8
通讯作者：
Manson, FDC
中科院分区：
文献类型：
--
作者：
Kolehmainen, J;Wilkinson, R;Manson, FDC
科恩综合征是一种常染色体隐性遗传疾病，与发育迟缓、面部畸形、色素性视网膜病变和中性粒细胞减少症有关。多效性表型，加上临床资料不足，往往导致误诊，并导致文献混乱。在这里，我们报告了一个全面的基因型-表型研究的最大队列的科恩综合征患者组装的日期。我们发现了22种不同的COH 1突变，其中19种是新的，在我们的诊断标准确定的先证者。此外，我们在临床数据不完整的患者中发现了另外三种新的突变。相比之下，在临时诊断为科恩综合征但不符合诊断标准（“科恩样”综合征）的患者中没有发现COH 1突变。这项研究提供了与科恩综合征相关的临床表型的分子确认，并提供了实验室筛查的基础，这将是有价值的诊断。
Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria ("Cohen-like" syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.