A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review

Author:

Lu Yiting1,Liu Xinchang1,Sun Lin1,Zhang Di1,Fan Peng1,Yang Kunqi1,Zhang Lin1,Liu Yaxin2,Zhou Xianliang1

Affiliation:

1. Department of Cardiology, National Center for Cardiovascular Diseases, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China

2. Emergency and Critical Care Center, National Center for Cardiovascular Diseases, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference36 articles.

1. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion;Liddle;Trans Assoc Am Phys,1963

2. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome;Schild;EMBO J,1996

3. Molecular genetics of Liddle's syndrome;Yang;Clin Chim Acta,2014

4. Liddle syndrome: review of the literature and description of a new case;Tetti;Int J Mol Sci,2018

5. Monogenic forms of low-renin hypertension: Clinical and molecular insights;Khandelwal;Pediatr Nephrol,2021

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