scholarly journals Liddle Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Liddle Syndrome

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case

2015 ◽  
Vol 82 (4) ◽  
pp. 611-614 ◽  
Author(s):  
Kun-Qi Yang ◽  
Chao-Xia Lu ◽  
Yan Xiao ◽  
Ya-Xin Liu ◽  
Xiong-Jing Jiang ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

scholarly journals Liddle syndrome: clinical and genetic profiles

2016 ◽  
Vol 19 (5) ◽  
pp. 524-529 ◽  
Author(s):  
Yunying Cui ◽  
Anli Tong ◽  
Jun Jiang ◽  
Fen Wang ◽  
Chunyan Li
Keyword(s):  
Liddle Syndrome ◽  
Genetic Profiles

scholarly journals Role of the UPS in Liddle syndrome

2008 ◽  
Vol 9 (Suppl 1) ◽  
pp. S5 ◽  
Author(s):  
Daniela Rotin
Keyword(s):  
Liddle Syndrome

Liddle syndrome in a Serbian family and literature review of underlying mutations

2011 ◽  
Vol 171 (3) ◽  
pp. 471-478 ◽  
Author(s):  
Radovan Bogdanović ◽  
Vladimir Kuburović ◽  
Nataša Stajić ◽  
Sadaf S. Mughal ◽  
Alina Hilger ◽  
...  
Keyword(s):  
Literature Review ◽  
Liddle Syndrome

scholarly journals Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension

2020 ◽  
Vol 33 (7) ◽  
pp. 670-675
Author(s):  
Peng Fan ◽  
Xiao-Cheng Pan ◽  
Di Zhang ◽  
Kun-Qi Yang ◽  
Ying Zhang ◽  
...  
Keyword(s):  
Early Onset ◽  
In Silico ◽  
Genetic Diagnosis ◽  
In Silico Analysis ◽  
Missense Variant ◽  
Chinese Family ◽  
Clinical Genetic ◽  
Autosomal Dominant Disorder ◽  
Liddle Syndrome ◽  
Silico Analysis

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 systematic review of epithelial sodium channel (ENaC)-gene-positive LS cases to conclude the clinical genetic features of LS in childhood. METHODS Next-generation sequencing and in silico analysis were performed in the proband to discover candidate variants. Sanger sequencing was used to identify the predicted likely pathogenic variant. LS patients in this family were treated with amiloride. The Medline database was searched to summarize clinical features of pediatric LS cases whose age at genetic diagnosis was not more than 18 years. RESULTS Genetic analysis identified a novel SCNN1G missense variant (c.1874C>T, p.Pro625Leu) in the proband with LS in childhood. In silico analysis revealed this heterozygous variant was highly conserved and deleterious. A total of 38 publications described pediatric LS associated with 25 pathogenic variants in SCNN1B and SCNN1G in 54 children. Despite the phenotypic heterogeneity, early-onset hypertension is the most common feature. All LS patients in this family or the reviewed cases showed significantly improvements in hypertension and hypokalemia after treatment with ENaC inhibitors. CONCLUSIONS This study identified a novel SCNN1G missense variant in a patient with pediatric LS, expanding the genetic spectrum of SCNN1G and demonstrating the PY motif of γ-ENaC as a potential mutant region. Early identification and specific management of LS in children and adolescents are important to prevent the development of hypertensive end-organ disease.

Liddle Syndrome

2019 ◽  
pp. 652-663 ◽  
Author(s):  
Ermanno Rossi ◽  
Giovanni Maria Rossi
Keyword(s):  
Liddle Syndrome

scholarly journals A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

2019 ◽  
Vol 32 (8) ◽  
pp. 752-758
Author(s):  
Peng Fan ◽  
Yu-Mo Zhao ◽  
Di Zhang ◽  
Ying Liao ◽  
Kun-Qi Yang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Single Gene ◽  
Family Members ◽  
Premature Stop Codon ◽  
Chinese Family ◽  
Autosomal Dominant Disorder ◽  
Liddle Syndrome ◽  
Genetic Sequencing

Abstract BACKGROUND Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G frameshift mutation. METHODS Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients. RESULTS Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proband with LS. This heterozygous frameshift mutation generated a premature stop codon and deleted the vital PY motif of ENaC. The same mutation was present in his elder brother with LS, and his mother without any LS symptoms. Biochemical examination showed normokalemia in the three mutation carriers. The mutation identified was not found in any other family members, 100 hypertensives, or 100 healthy controls. CONCLUSIONS Our study identified a novel SCNN1G frameshift mutation in a Chinese family with LS, expanding the genetic spectrum of SCNN1G. Genetic testing helped us identify LS with a pathogenic mutation when the genotypes and phenotype were not completely consistent because of the hypokalemia. This case emphasizes that once a proband is diagnosed with LS by genetic testing, family genetic sequencing is necessary for early diagnosis and intervention for other family members, to protect against severe cardiovascular complications.

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