Article
Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation.
Kidney & blood pressure research - 1 Jan 2020
Fan Peng, Zhang Di, Pan Xiao-Cheng, Yang Kun-Qi, Zhang Qiong-Yu, Lu Yi-Ting, Zhang Ying, Liu Xue-Ying, Ma Wen-Jun, Zhang Hui-Min, Song Lei, Cai Jun, Liu Ya-Xin, Zhou Xian-Liang
Abstract excerpt
INTRODUCTION: Liddle syndrome (LS), an autosomal dominant and inherited monogenic hypertension syndrome caused by pathogenic mutations in the epithelial sodium channel (ENaC) genes SCNN1A, SCNN1B, and SCNN1G. OBJECTIVE: This study was designed to identify a novel SCNN1B missense mutation in a Chinese family with a history of stroke, and to confirm that the identified mutation is responsible for LS in this family....
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