Article
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.
Nature genetics - 5 Feb 2012
Astuti Dewi, Morris Mark R, Cooper Wendy N, Staals Raymond H J, Wake Naomi C, Fews Graham A, Gill Harmeet, Gentle Dean, Shuib Salwati, Ricketts Christopher J, Cole Trevor, van Essen Anthonie J, van Lingen Richard A, Neri Giovanni, Opitz John M, Rump Patrick, Stolte-Dijkstra Irene, Müller Ferenc, Pruijn Ger J M, Latif Farida, Maher Eamonn R
Abstract excerpt
Perlman syndrome is a congenital overgrowth syndrome inherited in an autosomal recessive manner that is associated with Wilms tumor susceptibility. We mapped a previously unknown susceptibility locus to 2q37.1 and identified germline mutations in DIS3L2, a homolog of the Schizosaccharomyces pombe dis3 gene, in individuals with Perlman syndrome. Yeast dis3 mutant strains have mitotic abnormalities. Yeast Dis3 and...
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