Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome

Qu, Yi; Lu, Yiting; Zhang, Di; Liu, Xinchang; Fan, Peng; Chen, Jiexin; Zhang, Hanbo; Yang, Kun; Tian, Tao; Zhou, Yi; Zhang, Qiongyu; Wang, Linping; Huang, Zhuo; Liu, Yaxin; Hu, Aihua; Zhou, Xin

doi:10.1016/j.scib.2023.02.006

Cited by 5 publications

(2 citation statements)

References 12 publications

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“…Genetic testing also has implications for the identification of first-degree relatives carrying the same pathogenic mutation, such as for guiding targeted drug use and eugenism. The present review demonstrated that 12% of patients with liddle syndrome have a family history of stroke and are often associated with hypertensive target organ damage, such as left ventricular hypertrophy or stroke, similar to the findings of Qu et al (35). With the exception of one patient who died of an unknown cause, all patients with liddle syndrome demonstrated significant improvements in blood pressure and serum potassium concentration after precise enac inhibitor therapy, and no cardiovascular disease-associated events were reported.…”

Section: Discussionsupporting

confidence: 87%

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

Lu,

Liu,

Sun

et al. 2023

Mol Med Rep

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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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Section: Discussionsupporting

confidence: 87%

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

Lu,

Liu,

Sun

et al. 2023

Mol Med Rep

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“…This condition, also known as pseudohyperaldosteronism, is inherited in an autosomal dominant manner with variable penetrance, thus allowing for variability in phenotypes [38][39][40]. Less than 50 different disease-causing mutations have been identified, with mutations in the SCNN1B gene being the most common [41].…”

Section: Discussionmentioning

confidence: 99%

Low renin forms of monogenic hypertension: review of the evidence

Okorafor,

Okorafor

2024

J CLIN MED KAZ

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Background: Monogenic hypertension syndromes result from a single genetic mutation and present with severe, refractory hypertension, distinct laboratory abnormalities, and a positive family history. These syndromes are often unrecognized or misdiagnosed as essential hypertension, thus preventing proper treatment. The rise of molecular genetics has brought these conditions to the limelight, and physicians must be kept abreast of the latest in this field. This paper aims to educate doctors to recognize and institute appropriate management early to prevent end-organ damage. Discussion: These syndromes all affect sodium transport in the distal nephron of the kidneys. However, they are divided based on the location of the primary disorder, i.e., the adrenal glands or the distal nephron and discussed in that manner. Tables provide an overview of the different syndromes and provide essential information in a snapshot. Conclusion: The widespread availability of genetic testing facilities will aid in the earlier diagnosis of these conditions to prevent morbidity.

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Genetic background of neonatal hypokalemia

Fang,

Zhou

2024

Pediatr Nephrol

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Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome

Cited by 5 publications

References 12 publications

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

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

Low renin forms of monogenic hypertension: review of the evidence

Genetic background of neonatal hypokalemia

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