Publication:
Unique combination and in silico modeling of biallelic polr3a variants as a cause of wiedemann-rautenstrauch syndrome

Placeholder

School / College / Institute

Program

KU-Authors

KU Authors

Co-Authors

Temel, Sehime Gulsun
Ergoren, Mahmut Cerkez
Manara, Elena
Paolacci, Stefano
Tuncel, Gulten
Bertelli, Matteo

Publication Date

Language

Embargo Status

Journal Title

Journal ISSN

Volume Title

Alternative Title

Abstract

Neonatal progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in thePOLR3A(RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in thePOLR3Agene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations.

Source

Publisher

Springernature

Subject

Biochemistry, Molecular biology, Genetics, Heredity

Citation

Has Part

Source

European Journal of Human Genetics

Book Series Title

Edition

DOI

10.1038/s41431-020-0673-1

item.page.datauri

Link

Rights

Copyrights Note

Endorsement

Review

Supplemented By

Referenced By

0

Views

0

Downloads

View PlumX Details