Perlman syndrome is a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. Perlman syndrome is associated with high neonatal mortality and, survivors have developmental delay and a high risk of Wilms tumor. Recently a Perlman syndrome locus was mapped to chromosome 2q37 and homozygous or compound heterozygous mutations were characterized in DIS3L2. The DIS3L2 gene product has ribonuclease activity and homology to the DIS3 component of the RNA exosome. It has been postulated that the clinical features of Perlman syndrome result from disordered RNA metabolism and, though the precise targets of DIS3L2 have yet to be characterized, in cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division. © 2013 Wiley Periodicals, Inc.

中文翻译：

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Perlman 综合征：过度生长、肾母细胞瘤易感性和 DIS3L2

Perlman 综合征是一种罕见的常染色体隐性遗传的先天性过度生长综合征，其特征是羊水过多、巨大儿、特征性面部畸形、肾发育不良和肾母细胞瘤病以及多种先天性异常。Perlman 综合征与高新生儿死亡率有关，幸存者有发育迟缓和肾母细胞瘤的高风险。最近，一个 Perlman 综合征基因座被定位到染色体 2q37，并且在DIS3L2中表征了纯合或复合杂合突变。DIS3L2 _基因产物具有核糖核酸酶活性并与 RNA 外泌体的 DIS3 成分同源。据推测，Perlman 综合征的临床特征是由 RNA 代谢紊乱引起的，尽管 DIS3L2 的精确靶标尚未确定，但在细胞模型中，DIS3L2 敲低与细胞生长和分裂异常有关。© 2013 威利期刊公司。