Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

This dataset contains the data (*.vcf files) for the paper “Colombo EA, Valiante M, Uggeri M, Orro A, Majore S, Grammatico P, Gentilini D, Finelli P, Gervasini C, D'Ursi P, Larizza L. Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling. Int J Mol Sci. 2023 Feb 16;24(4):4028. doi: 10.3390/ijms24044028. PMID: 36835439; PMCID: PMC9965077. In this study, the authors report the first observation of biallelic NUP98 germline variants in two siblings presenting sparse eyebrows/eyelashes, bilateral cataracts, hypogonadism, skeletal defects, premature aging signs, a picture reminiscent of both Rothmund–Thomson syndrome type 2 (RTS2,OMIM#268400) and RTS type 1 (RTS1, OMIM#618625). Patients (negative for RECQL4 mutations) were tested by whole exome sequencing (WES) in order to identify the causative gene(s). WES on the affected siblings, their parents, and a healthy brother disclosed in both patients two homozygous highly linked non-synonymous variants of the NUP98 gene, which was present in the heterozygous state in the healthy parents.