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

Elisa Adele Colombo¹, Michele Valiante², Matteo Uggeri^3,4

¹Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.

International Journal of Molecular Sciences

|February 25, 2023

Summary

This summary is machine-generated.

This study identifies novel mutations in the NUP98 gene causing a Rothmund-Thomson syndrome-like disorder. These findings expand the known functions of NUP98 beyond cancer, highlighting its role in genetic disorders.

Keywords:

FG repeats NUP98 variants Rothmund–Thomson spectrum endocrine perturbation intrinsic disordered regions juvenile cataracts protein molecular modeling whole exome sequencing

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Area of Science:

Genetics and Molecular Biology
Human Physiology
Biochemistry

Background:

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder typically linked to RECQL4 gene mutations.
RTS presents with a distinct phenotype including poikiloderma, skeletal abnormalities, and predisposition to certain cancers.
Genetic diagnostics for RTS often involve sequencing the RECQL4 gene.

Observation:

Two siblings presented with symptoms overlapping RTS, but RECQL4 sequencing was negative.
Whole exome sequencing revealed homozygous variants in the NUP98 gene (c.83G>A and c.2624A>C).
The c.83G>A variant affects a highly conserved amino acid within the NUP98 intrinsically disordered FG-repeat region.

Findings:

Molecular modeling showed the mutated NUP98 FG domain adopts a more elongated conformation, impacting its interaction capabilities.
Altered NUP98 dynamics suggest impaired function as a docking station for RNA and proteins.
These NUP98 variants are proposed as the cause of a novel constitutional NUP98 disorder.

Implications:

This research describes the first constitutional disorder associated with NUP98 mutations.
The findings suggest a potential overlap in molecular pathways between NUP98-related disorders and RTS.
The study broadens the understanding of NUP98's role in human health, extending beyond its established involvement in cancer.