Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
28
11
2019
accepted:
02
06
2020
revised:
19
05
2020
pubmed:
20
6
2020
medline:
3
6
2021
entrez:
20
6
2020
Statut:
ppublish
Résumé
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 the POLR3A (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 the POLR3A gene. 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.
Identifiants
pubmed: 32555393
doi: 10.1038/s41431-020-0673-1
pii: 10.1038/s41431-020-0673-1
pmc: PMC7784914
doi:
Substances chimiques
POLR3A protein, human
EC 2.7.7.6
RNA Polymerase III
EC 2.7.7.6
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1675-1680Références
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