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12-09-2023 | Stroke | Brief Communication

Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype–phenotype correlation

Authors: Dipanwita Sadhukhan, Parama Mitra, Smriti Mishra, Arunima Roy, Gargi Podder, Biman Kanti Ray, Atanu Biswas, Subhra Prakash Hui, Tapas Kumar Banerjee, Arindam Biswas

Published in: Neurological Sciences | Issue 1/2024

Abstract

Introduction

RNF213 mutations have been reported mostly in moyamoya disease (MMD) with varying frequencies across different ethnicities. However, its prevalence in non-MMD adult-onset ischemic stroke is still not well explored.

Aims and objectives

This present study thus aims to screen the most common RNF213 variant (Arg4810Lys, among East Asians) in the Eastern Indian non-MMD ischemic stroke patients and correlate it with long-term progression and prognosis of the patients. The subjects were analyzed for this variant using PCR-RFLP and confirmed using Sanger sequencing method.

Result and conclusion

We have identified Arg4810Lys variant among eleven young-onset familial ischemic stroke patients in heterozygous manner. A positive correlation of the variant with positive family history (P = 0.001), earlier age at onset (P = 0.002), and history of recurrent stroke (P = 0.015) was observed. However, the carriers showed better cognitive performances in memory (P = 0.042) and executive function (P = 0.004). Therefore, we can conclude that Arg4810Lys/RNF213 — a pathogenic variant for young-onset familial ischemic stroke with higher incidence of recurrent events unlike in MMD cases, have no additional impact on cognition among Eastern Indians.

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Title: Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype–phenotype correlation
Authors: Dipanwita Sadhukhan
Parama Mitra
Smriti Mishra
Arunima Roy
Gargi Podder
Biman Kanti Ray
Atanu Biswas
Subhra Prakash Hui
Tapas Kumar Banerjee
Arindam Biswas
Publication date: 12-09-2023
Publisher: Springer International Publishing
Keyword: Stroke
Published in: Neurological Sciences / Issue 1/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-07051-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype–phenotype correlation

Abstract

Introduction

Aims and objectives

Result and conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Aims and objectives

Result and conclusion

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