Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
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DOI：
10.1002/humu.21057
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发表时间：
2009-08
期刊：
影响因子：
3.9
通讯作者：
Kestila, Marjo
中科院分区：
文献类型：
--
作者：
Tallila, Jonna;Salonen, Riitta;Kohlschmidt, Nicolai;Peltonen, Leena;Kestila, Marjo
梅克尔综合征 (MKS) 是一种致命的畸形综合征，属于与原发性纤毛功能障碍相关的疾病组。已知共有五个基因参与 MKS 的分子背景。在这里，我们系统地分析了总共 29 个 MKS 家族的所有这些基因。其中七个家庭是芬兰人，其余的来自欧洲其他地方。我们在 13 个家族中发现了 12 个新突变。 MKS 基因突变也存在于其他综合症中，并且可以合理地假设综合症和突变之间存在相关性。为了获得一些支持性信息，我们收集了之前发表的所有基因突变，以了解不同的综合征是否是由突变的性质决定的。根据这项研究，突变在临床表型中发挥着作用，因为从未在两种临床不同的综合征中报道过相同的等位基因突变组合。
Meckel syndrome (MKS) is a lethal malformation syndrome that belongs to the group of disorders that are associated with primary cilia dysfunction. Total of five genes are known to be involved in the molecular background of MKS. Here we have systematically analyzed all these genes in a total of 29 MKS families. Seven of the families were Finnish and the rest originated from elsewhere in Europe. We found 12 novel mutations in 13 families. Mutations in the MKS genes are also found in other syndromes and it seems reasonable to assume that there is a correlation between the syndromes and the mutations. To obtain some supportive information, we collected all the previously published mutations in the genes to see whether the different syndromes are dictated by the nature of the mutations. Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes.
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