Back to Search Start Over

Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions

Authors :
Chun-Xiao Li
Xiaona Zhang
Li-Ou Tang
Zhao-Yan Xi
Lin Xu
Bing-Hui Hou
Source :
Brain and Development. 43:331-336
Publication Year :
2021
Publisher :
Elsevier BV, 2021.

Abstract

Background Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even within the same family. Materials and methods We identified and enrolled a patient with PFBC. Clinical data were comprehensively collected, including the age of onset, seizure types and frequency, trigger factors of paroxysmal dyskinesia, response to drugs, and general and neurological examination results. Whole-exome sequencing (WES) was performed to detect pathogenic variants. We further systematically reviewed the phenotypic and genetic features of patients with XPR1 mutations. Results The patient showed bilateral calcification involving basal ganglia and cerebellar dentate. Clinically, he presented as paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) with favorable outcome. We identified a compound heterozygous XPR1 mutation (c.786_789delTAGA/p.D262Efs*6, c.1342C>T/p.R448W), which were inherited from unaffected parents respectively. Further literature review shows a wide range of clinical manifestations of patients with XPR1 mutations, with movement disorders being the most common. Conclusions This is the first report of biallelic mutations in XPR1. The findings suggest for the first time a possible link between PKD/IC and XPR1 mutations.

Details

ISSN :
03877604
Volume :
43
Database :
OpenAIRE
Journal :
Brain and Development
Accession number :
edsair.doi...........32b8c4086ea8e93abce6711d8b3dd0fd
Full Text :
https://doi.org/10.1016/j.braindev.2020.09.014