A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

ABSTRACT:

Background

Germline pathogenic variants in DICER1 cause DICER1 syndrome, an autosomal dominant, pleiotropic tumour predisposition syndrome with variable expressivity and reduced penetrance for specific dysplastic and neoplastic lesions. Recently, a syndrome with the acronym GLOW (Global developmental delay, Lung cysts, Overgrowth, Wilms tumour) was described in two children with mosaic missense mutations in hotspot residues of the DICER1 RNase IIIb domain.

Methods

Whole genome sequencing, exome sequencing, Sanger sequencing, digital PCR and a review of Wilms tumours with DICER1 RNase III domain mutations were performed.

Results

A de novo heterozygous c.4031C>T (p.S1344L) variant in the sequence encoding the RNase IIIa domain o

SUBMITTER: Ponten E 

PROVIDER: S-EPMC8788248 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature