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 |
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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. |
doi_str_mv | 10.1016/j.arcmed.2023.102859 |
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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. Published by Elsevier Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c362t-126b15670a28a1974e660a741d5fc1ccea01d0a34dfc489eb74e1d39208a92603</citedby><cites>FETCH-LOGICAL-c362t-126b15670a28a1974e660a741d5fc1ccea01d0a34dfc489eb74e1d39208a92603</cites><orcidid>0000-0003-1658-7152 ; 0000-0002-5142-8993 ; 0000-0001-8352-9310</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.arcmed.2023.102859$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37516009$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hernández, Norma E. Guerra</creatorcontrib><creatorcontrib>Pérez, Laura I. Escobar</creatorcontrib><creatorcontrib>Aguilera, Dora</creatorcontrib><creatorcontrib>Camargo-Muñiz, María Dolores</creatorcontrib><creatorcontrib>Espinosa, Cinthya Fabiola Ceceña</creatorcontrib><creatorcontrib>Jaramillo, María de la Cruz Ruiz</creatorcontrib><creatorcontrib>Salvador, Carolina</creatorcontrib><creatorcontrib>González, Zinaeli López</creatorcontrib><creatorcontrib>Hureaux, Marguerite</creatorcontrib><creatorcontrib>Vargas-Poussou, Rosa</creatorcontrib><title>Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome</title><title>Archives of medical research</title><addtitle>Arch Med Res</addtitle><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><subject>Bartter's syndrome</subject><subject>Hypercalciuria</subject><subject>Hypokalemic metabolic alkalosis</subject><subject>Nephrocalcinosis</subject><subject>Polyuria</subject><issn>0188-4409</issn><issn>1873-5487</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNp9kE1PwzAMhiMEYuPjHyCUI5cOp03T9II0JgZIAw6wc5QlLmRqU0g6YP-eToUrJ0v289ryQ8gZgwkDJi7XEx1Mg3aSQpr1rVTm5R4ZM1lkSc5lsU_GwKRMOIdyRI5iXAOA5KI4JKOsyJkAKMdkOaudd0bXdO68df41Uu0tvUWPnTN06nW9jS7StqKPziN9wO-e9nSuG1c7jPTLdW_0Woeuw0Cft96GtsETclDpOuLpbz0my_nNy-wuWTzd3s-mi8RkIu0SlooVy0UBOpWalQVHIUAXnNm8MswY1MAs6IzbynBZ4qonmM3KFKQuUwHZMbkY9r6H9mODsVONiwbrWntsN1H1TjjPuATWo3xATWhjDFip9-AaHbaKgdoJVWs1CFU7oWoQ2sfOfy9sVrvZX-jPYA9cDQD2f346DCoah96gdQFNp2zr_r_wA88ih3g</recordid><startdate>20230901</startdate><enddate>20230901</enddate><creator>Hernández, Norma E. Guerra</creator><creator>Pérez, Laura I. Escobar</creator><creator>Aguilera, Dora</creator><creator>Camargo-Muñiz, María Dolores</creator><creator>Espinosa, Cinthya Fabiola Ceceña</creator><creator>Jaramillo, María de la Cruz Ruiz</creator><creator>Salvador, Carolina</creator><creator>González, Zinaeli López</creator><creator>Hureaux, Marguerite</creator><creator>Vargas-Poussou, Rosa</creator><general>Elsevier Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-1658-7152</orcidid><orcidid>https://orcid.org/0000-0002-5142-8993</orcidid><orcidid>https://orcid.org/0000-0001-8352-9310</orcidid></search><sort><creationdate>20230901</creationdate><title>Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c362t-126b15670a28a1974e660a741d5fc1ccea01d0a34dfc489eb74e1d39208a92603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Bartter's syndrome</topic><topic>Hypercalciuria</topic><topic>Hypokalemic metabolic alkalosis</topic><topic>Nephrocalcinosis</topic><topic>Polyuria</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hernández, Norma E. Guerra</creatorcontrib><creatorcontrib>Pérez, Laura I. Escobar</creatorcontrib><creatorcontrib>Aguilera, Dora</creatorcontrib><creatorcontrib>Camargo-Muñiz, María Dolores</creatorcontrib><creatorcontrib>Espinosa, Cinthya Fabiola Ceceña</creatorcontrib><creatorcontrib>Jaramillo, María de la Cruz Ruiz</creatorcontrib><creatorcontrib>Salvador, Carolina</creatorcontrib><creatorcontrib>González, Zinaeli López</creatorcontrib><creatorcontrib>Hureaux, Marguerite</creatorcontrib><creatorcontrib>Vargas-Poussou, Rosa</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Archives of medical research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hernández, Norma E. Guerra</au><au>Pérez, Laura I. Escobar</au><au>Aguilera, Dora</au><au>Camargo-Muñiz, María Dolores</au><au>Espinosa, Cinthya Fabiola Ceceña</au><au>Jaramillo, María de la Cruz Ruiz</au><au>Salvador, Carolina</au><au>González, Zinaeli López</au><au>Hureaux, Marguerite</au><au>Vargas-Poussou, Rosa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome</atitle><jtitle>Archives of medical research</jtitle><addtitle>Arch Med Res</addtitle><date>2023-09-01</date><risdate>2023</risdate><volume>54</volume><issue>6</issue><spage>102859</spage><epage>102859</epage><pages>102859-102859</pages><artnum>102859</artnum><issn>0188-4409</issn><eissn>1873-5487</eissn><abstract>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.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>37516009</pmid><doi>10.1016/j.arcmed.2023.102859</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-1658-7152</orcidid><orcidid>https://orcid.org/0000-0002-5142-8993</orcidid><orcidid>https://orcid.org/0000-0001-8352-9310</orcidid></addata></record> |
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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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