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FB2025_05
,
released December 11, 2025
This report describes Perlman syndrome (PRLMNS); PRLMNS exhibits autosomal recessive inheritance. The human gene implicated in this disease is DIS3L2, that encodes a ribonuclease component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs. There is a single orthologous gene in Drosophila, Dis3l2, for which amorphic and loss-of-function mutations, RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated.
The human DIS3L2 gene has not been introduced into flies.
Animals homozygous for an amorphic mutation of Dmel\Dis3l2 exhibit significantly larger wings; the increase in size has been shown to be due to an increase in cell number. The overgrowth phenotype appears to be restricted to imaginal discs, including halter discs and leg discs. Overexpression of Dis3l2 results in smaller wing size. Dis3l2 has been found to target a small subset of mRNAs in flies, including an mRNA encoding the growth factor Idgf2; downstream pathways related to Idgf2 have been investigated in the fly model. A small number of physical and genetic interactions have been described for Dmel\Dis3l2; see below and in the Dis3l2 gene report.
[updated Apr. 2021 by FlyBase; FBrf0222196]
[PERLMAN SYNDROME; PRLMNS](https://omim.org/entry/267000)
[DIS3-LIKE 3-PRIME-5-PRIME EXORIBONUCLEASE 2; DIS3L2](https://omim.org/entry/614184)
Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (MIM:130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012; pubmed:22306653). [from MIM:267000; 2021.04.17]
Perlman syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene. [from MIM:267000; 2021.04.17]
DIS3L2 encodes a 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' ends and mediates their degradation; a component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs. [Gene Cards, DIS3L2; 2021.04.17]
One to one: 1 human gene to 1 Drosophila gene.
High-scoring ortholog of human DIS3L2 (1 Drosophila to 1 human). Dmel\Dis3l2 shares 34% identity and 51% similarity with the human gene.