ArticleMolecular biology reports2014
Phenotype-genotype analysis in two Chinese families with Liddle syndrome.
Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- A frameshift mutation in theMolecular medicine reports · 2024Pooled it
- SCNN1B regulates the proliferation, migration, and collagen deposition of human lung fibroblasts.In vitro cellular & developmental biology. Animal · 2023Article
- A Novel Frame-Shift Mutation inFrontiers in cardiovascular medicine · 2022Article
- Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation ofFrontiers in pediatrics · 2022Article
- A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.American journal of hypertension · 2019Article
- A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit.Experimental and therapeutic medicine · 2019Article
- Liddle's syndrome mechanisms, diagnosis and management.Integrated blood pressure control · 2019Article
- Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.Endocrine connections · 2018Article
- Liddle Syndrome: Review of the Literature and Description of a New Case.International journal of molecular sciences · 2018Review
- Liddle syndrome: clinical and genetic profiles.Journal of clinical hypertension (Greenwich, Conn.) · 2017Article
- Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Molecular biology reports · 2016Article
- Prolactin stimulates sodium and chloride ion channels in A6 renal epithelial cells.American journal of physiology. Renal physiology · 2015Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The families with Liddle syndrome show marked phenotypic variation in blood pressure, serum potassium and other clinical manifestations. Here we analyzed the correlation of genotype-phenotype in two Chinese families with Liddle syndrome. The sequence of C-terminus of SCNN1B and SCNN1G were screened in the two families with likely Liddle syndrome. In addition to hypertension and hypokalemia, one of the two pedigrees had sudden death in their family members, so the exons of 428 reported genes-related to cardiovascular diseases were screened as well in the family. A heterozygous βR566X nonsense mutation was found in the proband-1 in the first pedigree, and the proband's sister and father. They showed mild phenotype with hypertension under control. In contrast, two of the four previous studies report that the mutation causes severe phenotype. A heterozygous βR597PfrX607 frameshift mutation was identified in the proband-2 in the second pedigree, showing malignant phenotype including resistant hypertension, hypokalemia, higher PRA and plasma angiotensin II levels. Both the proband-2 and the proband-2's father had sudden death in their twenties, but no meaningful mutations were found by screening of the exons in 428 cardiovascular disease-related genes. However, the same mutation has been related to moderate phenotype in previous studies. Our results confirmed that the phenotypes of Liddle syndrome are varied significantly even with the same mutation. The mechanisms why the same mutation causes very different phenotype need to be explored because intervention of these modifiers may change the disease course and prognosis accordingly.
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