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首页> 外文期刊>PLoS Genetics >Germline Mutation in NLRP2 ( NALP2 ) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
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Germline Mutation in NLRP2 ( NALP2 ) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

机译：家族性印记障碍（贝克威-韦德曼综合征）中NLRP2（NALP2）的种系突变

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Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and result from epimutations at either of the two 11p15.5 imprinting centres (IC1 and IC2). However, rare familial cases may be associated with germline 11p15.5 deletions causing abnormal imprinting in cis. We report a family with BWS and an IC2 epimutation in which affected siblings had inherited different parental 11p15.5 alleles excluding an in cis mechanism. Using a positional-candidate gene approach, we found that the mother was homozygous for a frameshift mutation in exon 6 of NLRP2. While germline mutations in NLRP7 have previously been associated with familial hydatidiform mole, this is the first description of NLRP2 mutation in human disease and the first report of a trans mechanism for disordered imprinting in BWS. These observations are consistent with the hypothesis that NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans.
机译：Beckwith-Wiedemann综合征（BWS）是一种胎儿过度生长和人类印迹疾病，是由于11p15.5号染色体上印迹基因簇中许多基因（包括IGF2和CDKN1C）的失控所致。大多数情况是零星的，是由两个11p15.5印迹中心（IC1和IC2）中的一个基因突变引起的。但是，罕见的家族病例可能与种系11p15.5缺失相关，从而导致顺式印迹异常。我们报道了一个BWS和IC2突变的家庭，其中受影响的兄弟姐妹继承了顺式机制，而继承了不同的父母亲11p15.5等位基因。使用位置候选基因方法，我们发现母亲在NLRP2外显子6的移码突变中是纯合的。虽然NLRP7中的种系突变先前与家族性葡萄胎相似，但这是人类疾病中NLRP2突变的首次描述，也是BWS印迹印迹异常的反式机制的首次报道。这些观察结果与NLRP2在建立或维持人类基因组印记中具有以前未被认识的作用的假设相符。

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