Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome
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DOI：
10.1038/ejhg.2014.103
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发表时间：
2015-02-01
影响因子：
5.2
通讯作者：
Tauber, Maithe
中科院分区：
文献类型：
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作者：
Bieth, Eric;Eddiry, Sanaa;Tauber, Maithe
SNORD 116基因座位于Prader-Willi综合征（PWS）的父系表达基因的15 q11 -13区域，PWS是一种伴有肥胖和严重神经行为障碍的复杂疾病。已经描述了具有包含SNORD 116基因簇的缺失但保留侧翼基因表达的PWS患者的病例。我们报告一位23岁女性，临床表现为PWS，包括行为和营养特征、肥胖、发育迟缓和内分泌功能障碍伴高ghrelin血症。我们发现了一个父系传播的高度限制性缺失的SNORD 116基因簇，最短的描述日期（118 kb）。这种缺失也存在于父亲身上。这一人类病例的发现有力地支持了目前的假设，即缺乏父系SNORD 116基因簇在PWS的发病机制中具有决定性作用。此外，SNORD 116基因簇的靶向分析，SNRPN甲基化分析的补充，应在具有PWS表型的受试者中进行。
The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.