Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome
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DOI: 10.1080/10641963.2017.1334799
Abstract: ABSTRACT Background: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. Objectives: To identify… read more here.
Keywords: scnn1b scnn1g; scnn1g genes; hypertension; liddle syndrome ... See more keywords
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension
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DOI: 10.1093/ajh/hpaa037
Abstract: Abstract BACKGROUND Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. In this study, we reported a novel SCNN1G variant in a Chinese family with pediatric LS, and conduct a… read more here.
Keywords: variant; family; liddle syndrome; hypertension ... See more keywords
PATHOGENICITY AND LONG-TERM OUTCOMES OF LIDDLE SYNDROME CAUSED BY A NONSENSE MUTATION OF SCNN1G IN A CHINESE FAMILY.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of hypertension"
DOI: 10.1097/01.hjh.0000837704.48850.ec
Abstract: OBJECTIVE Liddle syndrome (LS) is a common monogenic hypertension with continuous activation of epithelial sodium channels (ENaCs) encoded by SCNN1A, SCNN1B, and SCNN1G. This study aimed to identify the pathogenicity of a nonsense mutation in… read more here.
Keywords: scnn1g; family; pathogenicity; liddle syndrome ... See more keywords
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report
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DOI: 10.1186/s12882-019-1579-4
Abstract: BackgroundLiddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium leading to low level… read more here.
Keywords: epithelial sodium; sodium channel; hypertension; liddle syndrome ... See more keywords
Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.887214
Abstract: Objective Liddle syndrome (LS) is a monogenic hypertension consistent with autosomal dominant inheritance, often with early onset high blood pressure in childhood or adolescence. This study aimed to identify the pathogenicity of a nonsense mutation… read more here.
Keywords: long term; family; pathogenicity; mutation ... See more keywords