Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2

Am J Med Genet C Semin Med Genet. 2013 May;163C(2):106-13. doi: 10.1002/ajmg.c.31358.


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.

MeSH terms

  • Exoribonucleases / genetics*
  • Fetal Macrosomia / genetics*
  • Genetic Predisposition to Disease*
  • Growth / genetics*
  • Humans
  • Wilms Tumor / genetics*


  • DIS3L2 protein, human
  • Exoribonucleases

Supplementary concepts

  • Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor