Molecular characteristics

A gene for Perlman syndrome was reported in 2012 by Astuti et al. After mapping a locus to chromosome 2q37, they identified biallelic pathogenic variants in the DIS3L2 gene. Perlman syndrome is an ultrarare disorder and to date, DIS3L2 mutations have been published in less than 20 families. Some recurrent mutations (e.g. exon 9 deletion) have been described. As yet no genotype–phenotype correlations have been described in Perlman syndrome and there is no evidence for locus heterogeneity.