دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.
المؤلفون: Lu Y; 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., Liu X; 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., Sun L; 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., Zhang D; 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., Fan P; 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., Yang K; 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., Zhang L; 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., Liu Y; 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., Zhou X; 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.
المصدر: Molecular medicine reports [Mol Med Rep] 2024 Feb; Vol. 29 (2). Date of Electronic Publication: 2023 Dec 15.
نوع المنشور: Case Reports; Systematic Review; Journal Article
اللغة: English
بيانات الدورية: Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-3004 (Electronic) Linking ISSN: 17912997 NLM ISO Abbreviation: Mol Med Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Athens, Greece : D. A. Spandidos
مواضيع طبية MeSH: Liddle Syndrome*/diagnosis , Liddle Syndrome*/genetics , Liddle Syndrome*/drug therapy , Hypertension*/genetics , Hypertension*/drug therapy, Humans ; Epithelial Sodium Channels/genetics ; Frameshift Mutation ; Mutation ; Potassium
مستخلص: Liddle syndrome is an autosomal dominant form of monogenic hypertension that is caused by mutations in SCNN1A , SCNN1B or SCNN1G , which respectively encode the α, β and γ subunits of the epithelial sodium channel. In the present study, DNA was extracted from leukocytes in peripheral blood obtained from all members of a family with Liddle syndrome. Whole‑exome sequencing and Sanger sequencing were performed to assess the candidate variant and a co‑segregation analysis was conducted. A frameshift mutation in SCNN1B (NM_ 000336: c.1806dupG, p.Pro603Alafs*5) in the family was identified, characterized by early‑onset hypertension and hypokalemia. The mutation led to the truncation of the β subunit of the epithelial sodium channel and a lack of the conservative PY motif. Furthermore, a systematic review of follow‑up data from patients with Liddle syndrome with SCNN1B mutations was performed. The follow‑up data of 108 patients with pathogenic SCNN1B mutations from 47 families were summarized. Phenotypic heterogeneity was evident in patients with Liddle syndrome and early‑onset hypertension was the most frequent symptom. Patients responded well to targeted amiloride therapy with significant improvements in blood pressure and serum potassium concentration. The present study demonstrates that confirmatory genetic testing and targeted therapy can prevent premature onset of clinical endpoint events in patients with Liddle syndrome.
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فهرسة مساهمة: Keywords: Liddle syndrome; SCNN1B; genetic testing; hypertension; phenotypic heterogeneity
المشرفين على المادة: 0 (Epithelial Sodium Channels)
RWP5GA015D (Potassium)
0 (SCNN1B protein, human)
تواريخ الأحداث: Date Created: 20231215 Date Completed: 20231216 Latest Revision: 20240114
رمز التحديث: 20240114
مُعرف محوري في PubMed: PMC10784729
DOI: 10.3892/mmr.2023.13142
PMID: 38099339
قاعدة البيانات: MEDLINE
الوصف
تدمد:1791-3004
DOI:10.3892/mmr.2023.13142