Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

Stefanie Perrier; Laurence Gauquelin; Jennifer A Wambach; Geneviève Bernard

doi:10.1002/ajmg.a.62553

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

Am J Med Genet A. 2022 Feb;188(2):708-712. doi: 10.1002/ajmg.a.62553. Epub 2021 Nov 12.

Authors

Stefanie Perrier^{1

2}, Laurence Gauquelin³, Jennifer A Wambach⁴, Geneviève Bernard^{1

2

5

6}

Affiliations

¹ Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
² Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
³ Division of Pediatric Neurology, Department of Pediatrics, CHUL et Centre mère-enfant Soleil du CHU de Québec - Université Laval, Québec City, Québec, Canada.
⁴ Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Saint Louis Children's Hospital, Saint Louis, Missouri, USA.
⁵ Department of Pediatrics and Department of Human Genetics, McGill University, Montréal, Québec, Canada.
⁶ Department of Specialized Medicine, Division of Medical Genetics, Montreal Children's Hospital and McGill University Health Centre, Montréal, Québec, Canada.

Abstract

A recent report by Majethia and Girisha described a patient with biallelic pathogenic variants in POLR3A and Wiedemann-Rautenstrauch syndrome. In this correspondence, we compare the features of this patient to that of a cohort of patients with severe POLR3-related leukodystrophy and a similar genotype and clinical course. We comment on the phenotyping and classification of POLR3-related disorders.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Mutation
Phenotype
RNA Polymerase III* / genetics

Substances

POLR3A protein, human
RNA Polymerase III

Abstract

Publication types

MeSH terms

Substances

Grants and funding