Mark R. Morris, Ph.D., is a Senior Lecturer in Molecular Biosciences at the University of Wolverhampton and Honorary Lecturer in Molecular Genetics at the University of Birmingham, UK. His research is focused on the molecular biology and genetics of renal and other cancers.
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2
Article first published online: 9 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
How to Cite
2013. Perlman syndrome: Overgrowth, Wilms tumor predisposition and DIS3L2. Am J Med Genet Part C Semin Med Genet 9999:1–8., , .
- Article first published online: 9 APR 2013
- Perlman syndrome;
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.