Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome

Bartter's syndrome (BS) is a group of salt-wasting tubulopathies characterized by hypokalemia, metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism, and low or normal blood pressure. Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb...

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Veröffentlicht in:Archives of medical research 2023-09, Vol.54 (6), p.102859-102859, Article 102859
Hauptverfasser: Hernández, Norma E. Guerra, Pérez, Laura I. Escobar, Aguilera, Dora, Camargo-Muñiz, María Dolores, Espinosa, Cinthya Fabiola Ceceña, Jaramillo, María de la Cruz Ruiz, Salvador, Carolina, González, Zinaeli López, Hureaux, Marguerite, Vargas-Poussou, Rosa
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container_issue 6
container_start_page 102859
container_title Archives of medical research
container_volume 54
creator Hernández, Norma E. Guerra
Pérez, Laura I. Escobar
Aguilera, Dora
Camargo-Muñiz, María Dolores
Espinosa, Cinthya Fabiola Ceceña
Jaramillo, María de la Cruz Ruiz
Salvador, Carolina
González, Zinaeli López
Hureaux, Marguerite
Vargas-Poussou, Rosa
description Bartter's syndrome (BS) is a group of salt-wasting tubulopathies characterized by hypokalemia, metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism, and low or normal blood pressure. Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb of Henle in the nephron, produced different genetic types of BS. Clinical and genetic analysis of families with Antenatal Bartter syndrome (ABS) and with Classic Bartter syndrome (CBS). Nine patients from unrelated non-consanguineous Mexican families were studied. Massive parallel sequencing of a gene panel or whole-exome sequencing was used to identify the causative gene. Proband 1 was homozygous for the pathogenic variant p.Arg302Gln in the SLC12A1 gene encoding for the sodium-potassium-chloride NKCC2 cotransporter. Proband 3 was homozygous for the nonsense variant p.Cys308* in the KCNJ1 gene encoding for the ROMK potassium channel. Probands 7, 8, and 9 showed variants in the CLCKNB gene encoding the chloride channel ClC-Kb: proband 7 was compound heterozygous for the deletion of the entire gene and the missense change p.Arg438Cys; proband 8 presented a homozygous deletion of the whole gene and proband 9 was homozygous for the nonsense mutation p.Arg595*. A heterozygous variant of unknown significance was detected in the SLC12A1 gene in proband 2, and no variants were found in SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, and MAGED2 genes in probands 4, 5, and 6. Genetic analysis identified loss-of-function variants in the SLC12A1, KCNJ1, and CLCNKB genes in four patients with ABS and in the CLCNKB gene in two patients with CBS.
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Guerra ; Pérez, Laura I. Escobar ; Aguilera, Dora ; Camargo-Muñiz, María Dolores ; Espinosa, Cinthya Fabiola Ceceña ; Jaramillo, María de la Cruz Ruiz ; Salvador, Carolina ; González, Zinaeli López ; Hureaux, Marguerite ; Vargas-Poussou, Rosa</creator><creatorcontrib>Hernández, Norma E. Guerra ; Pérez, Laura I. Escobar ; Aguilera, Dora ; Camargo-Muñiz, María Dolores ; Espinosa, Cinthya Fabiola Ceceña ; Jaramillo, María de la Cruz Ruiz ; Salvador, Carolina ; González, Zinaeli López ; Hureaux, Marguerite ; Vargas-Poussou, Rosa</creatorcontrib><description>Bartter's syndrome (BS) is a group of salt-wasting tubulopathies characterized by hypokalemia, metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism, and low or normal blood pressure. Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb of Henle in the nephron, produced different genetic types of BS. Clinical and genetic analysis of families with Antenatal Bartter syndrome (ABS) and with Classic Bartter syndrome (CBS). Nine patients from unrelated non-consanguineous Mexican families were studied. Massive parallel sequencing of a gene panel or whole-exome sequencing was used to identify the causative gene. Proband 1 was homozygous for the pathogenic variant p.Arg302Gln in the SLC12A1 gene encoding for the sodium-potassium-chloride NKCC2 cotransporter. Proband 3 was homozygous for the nonsense variant p.Cys308* in the KCNJ1 gene encoding for the ROMK potassium channel. Probands 7, 8, and 9 showed variants in the CLCKNB gene encoding the chloride channel ClC-Kb: proband 7 was compound heterozygous for the deletion of the entire gene and the missense change p.Arg438Cys; proband 8 presented a homozygous deletion of the whole gene and proband 9 was homozygous for the nonsense mutation p.Arg595*. A heterozygous variant of unknown significance was detected in the SLC12A1 gene in proband 2, and no variants were found in SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, and MAGED2 genes in probands 4, 5, and 6. Genetic analysis identified loss-of-function variants in the SLC12A1, KCNJ1, and CLCNKB genes in four patients with ABS and in the CLCNKB gene in two patients with CBS.</description><identifier>ISSN: 0188-4409</identifier><identifier>EISSN: 1873-5487</identifier><identifier>DOI: 10.1016/j.arcmed.2023.102859</identifier><identifier>PMID: 37516009</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Bartter's syndrome ; Hypercalciuria ; Hypokalemic metabolic alkalosis ; Nephrocalcinosis ; Polyuria</subject><ispartof>Archives of medical research, 2023-09, Vol.54 (6), p.102859-102859, Article 102859</ispartof><rights>2023</rights><rights>Copyright © 2023. 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Probands 7, 8, and 9 showed variants in the CLCKNB gene encoding the chloride channel ClC-Kb: proband 7 was compound heterozygous for the deletion of the entire gene and the missense change p.Arg438Cys; proband 8 presented a homozygous deletion of the whole gene and proband 9 was homozygous for the nonsense mutation p.Arg595*. A heterozygous variant of unknown significance was detected in the SLC12A1 gene in proband 2, and no variants were found in SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, and MAGED2 genes in probands 4, 5, and 6. 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subjects Bartter's syndrome
Hypercalciuria
Hypokalemic metabolic alkalosis
Nephrocalcinosis
Polyuria
title Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome
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