Pseudohypoaldosteronism in Two Omani Siblings with a Novel Mutation in the SCNN1A Gene

Al-Shaikh, Hala A.J.

doi:10.15226/2374-6890/4/2/00173

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…There are two types of PHA1 that may be characterized based on clinical and genetic characteristics: renal type (1A), which is inherited as autosomal dominant (AD), and systemic type with various target organ defects (1B) [1][2][3][4][5][6]10]. PHA type 1B is an autosomal recessive condition caused by mutations in the epithelial sodium channel (ENaC) gene (SCNN1A, SCNN1B, and SCNN1G) [11]. A literature review found no apparent relationship between genotype and phenotype [12,13].…”

Section: Discussionmentioning

confidence: 99%

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation

Alsaleh,

Al Ghadeer,

Aljabri

et al. 2024

Cureus

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Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder of resistance to aldosterone and presents with hyponatremia, hyperkalemia, and metabolic acidosis. Cohen syndrome (CS) is another rare inherited disease. Concurrent presentation with pseudohypoaldosteronism makes it so extraordinary and implies more challenges for clinicians. We report a case of a female with Cohen syndrome (novel mutation) and systemic pseudohypoaldosteronism, as well as the challenges we have encountered in the management of this patient.

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Section: Discussionmentioning

confidence: 99%

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation

Alsaleh,

Al Ghadeer,

Aljabri

et al. 2024

Cureus

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“…Alshaikh described 2 Omani siblings who had PHA 1b and presented in the first week of life with nausea, vomiting, hypotension, and hyperkalemic metabolic acidosis. They also had respiratory and cutaneous symptoms and were found to have a novel missense SCNN1A mutation (c.385G>A, p.Gly129Ser) [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population

Alzahrani

Alswailem

Abbas

et al. 2021

Journal of the Endocrine Society

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Context This study describes the molecular genetics of pseudohypoaldosteronism type 1b (PHA 1b) in the highly consanguineous population of two Arabian Gulf countries, Saudi Arabia and Oman. Patients and Methods This study enrolled 22 patients from 13 unrelated families (two families with five patients from Oman and 11 families with 17 patients from Saudi Arabia). All of these patients had presented within the first 10 days of life with nausea and vomiting, hyponatremia, hyperkalemia and hypotension. We isolated DNA from peripheral blood and PCR-sequenced all exons and exon-intron boundaries of SCNN1A and, if negative, SCNN1B and SCNN1G using the Dideoxy Chain termination method. Results We found a total of eight mutations in 13 families as follows: six mutations in SCNN1A, one in SCNN1B, and one in SCNN1G. All of these mutations were novel except one. SCNN1A mutations were: c.1496A>G, p.Q499R (novel) in one patient; c.1453C>T, p.Q485X (novel) in one patient; c.1322_1322delA, p.N441Tfs*41 (novel) in two patients of one family; c.876 + 2 delGAGT (novel) in three patients of one family; c.203_204 delTC, p.I68Tfs*76 (known mutation) in eight patients of five families; and whole SCNN1A gene deletion (novel) in two patients of two families. In addition, a nonsense SCNN1B mutation c.1694C>A, p.S565X (novel) was found in three siblings from one Omani family, and an SCNN1G deletion mutation c.527_528 delCA, p.T176Rfs*9 (novel) in two siblings form another Omani family. Conclusion We characterized a unique genotype of PHA 1b with several novel gene-structure disrupting mutations in SCNN1A, SCNN1B and SCNN1G in a consanguineous population.

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Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature

Chantzaras,

Panagiotou,

Koltsida

et al. 2024

Paediatric Respiratory Reviews

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Pseudohypoaldosteronism in Two Omani Siblings with a Novel Mutation in the SCNN1A Gene

Cited by 4 publications

References 18 publications

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population

Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature

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