Determination of carriers of deafness-infertility syndrome in Peru

Determination of carriers of deafness-infertility syndrome in Peru | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Determination of carriers of deafness-infertility syndrome in Peru Luana Ventura Cuellar, Kevin Aviles Jascha, Hugo Abarca-Barriga This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4485923/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 18 Nov, 2025 Read the published version in Orphanet Journal of Rare Diseases → Version 1 posted 5 You are reading this latest preprint version Abstract The prevalence of deafness-infertility syndrome (DIS) is approximately 1%. Genetic heterogeneity is one cause of homozygous copy number variants (CNVs) involving the CATSPER2 and STRC genes, which are associated with DIS and male infertility. Because the prevalence of DIS in Peru is unknown, we aimed to determine the frequency of carriers of DIS-related genes. In this descriptive crossover study, we evaluated the clinical histories and chromosomal microarray analysis results of patients at the Instituto Nacional de Salud del Niño Breña from 2015-2022. All patients with CNVs involving the CATSPER2 and STRC genes were included, and the frequencies of carriers and affected patients were determined using Hardy‒Weinberg equilibrium. Relative frequency differences were calculated using the chi-square test with goodness-of-fit for natural regions and poverty groups in Peru. Of 2,142 patients screened, 35 met the inclusion criteria; according to the results, approximately 367,364 people were estimated to be DIS carriers in Peru, and approximately 57,442 people had deafness and infertility. The proportion of carriers in Peru was similar to that observed in other population studies. Additionally, people in regions with higher poverty rates exhibited a greater carrier frequency, suggesting that a patient’s region of origin could be a criterion for DIS screening. CATSPER2 STRC male infertility deafness CNV Full Text Cite Share Download PDF Status: Published Journal Publication published 18 Nov, 2025 Read the published version in Orphanet Journal of Rare Diseases → Version 1 posted Editorial decision: Accept 16 Aug, 2025 Reviewers agreed at journal 24 May, 2025 Reviewers invited by journal 31 May, 2024 Editor assigned by journal 31 May, 2024 First submitted to journal 30 May, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4485923","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":309274445,"identity":"9f195762-d860-4759-a3d5-ccef232e38cd","order_by":0,"name":"Luana Ventura Cuellar","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAABJklEQVRIie3PPWuDQBjAcY8DXS5xvUPpZ3gkYFta/CyCYJaTZupSaS2CLtLZ0kK/QifXBo7aqXvGQMChOAQCIUP6og6ZNKRbKf6Hh+fgfnAnSX19f7DhblNQIElwbqEnMa2OVO8i8m7DNZm4Dk5luybkAFKPpUBxSqBeuwl1ivnGty5UjKP5BjAePCSrj5l/QiRFvD63EvfYSHLn9D5EsZGAPGSP79kZz6uHEdedtRLbpIMAAwgUUQIEG4GXjbhcEUrMdjJes8/gpiFsCxS9THkx4l/7CDe1QSAaohEAdJtyvPCiPYSUl5qevwELK6KD7aAkN7F3R4nc8RdVGWes9K9AVeKCldtvC8XhYsXX10eqIvI20ppMm3no9Tq8/M3tvr6+vn/fD23fWd2ukRYIAAAAAElFTkSuQmCC","orcid":"https://orcid.org/0000-0001-7606-763X","institution":"Universidad Científica del Sur: Universidad Cientifica del Sur","correspondingAuthor":true,"prefix":"","firstName":"Luana","middleName":"Ventura","lastName":"Cuellar","suffix":""},{"id":309274446,"identity":"c0942d7b-0b6f-4d31-9158-33b200aaa84b","order_by":1,"name":"Kevin Aviles Jascha","email":"","orcid":"","institution":"Universidad Científica del Sur: Universidad Cientifica del Sur","correspondingAuthor":false,"prefix":"","firstName":"Kevin","middleName":"Aviles","lastName":"Jascha","suffix":""},{"id":309274447,"identity":"4aeaf5b7-b0f5-4299-a2da-39b2c210dde0","order_by":2,"name":"Hugo Abarca-Barriga","email":"","orcid":"","institution":"Instituto Nacional de Salud del Niño: Instituto Nacional de Salud del Nino","correspondingAuthor":false,"prefix":"","firstName":"Hugo","middleName":"","lastName":"Abarca-Barriga","suffix":""}],"badges":[],"createdAt":"2024-05-27 15:07:05","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-4485923/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-4485923/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1186/s13023-025-04002-w","type":"published","date":"2025-11-18T15:59:01+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":96650941,"identity":"278e4139-4fb7-497c-b7f9-9209e2e4d93f","added_by":"auto","created_at":"2025-11-24 16:12:54","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":318929,"visible":true,"origin":"","legend":"","description":"","filename":"DIS.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4485923/v1_covered_75fe35c6-da83-480a-86f8-4d0c2d4ea9c7.pdf"}],"financialInterests":"","formattedTitle":"Determination of carriers of deafness-infertility syndrome in Peru","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"orphanet-journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"ojrd","sideBox":"Learn more about [Orphanet Journal of Rare Diseases](http://ojrd.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/ojrd/default.aspx","title":"Orphanet Journal of Rare Diseases","twitterHandle":"@bmc","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"BMC/SO AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"CATSPER2, STRC, male infertility, deafness, CNV","lastPublishedDoi":"10.21203/rs.3.rs-4485923/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4485923/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"The prevalence of deafness-infertility syndrome (DIS) is approximately 1%. Genetic heterogeneity is one cause of homozygous copy number variants (CNVs) involving the CATSPER2 and STRC genes, which are associated with DIS and male infertility. Because the prevalence of DIS in Peru is unknown, we aimed to determine the frequency of carriers of DIS-related genes. In this descriptive crossover study, we evaluated the clinical histories and chromosomal microarray analysis results of patients at the Instituto Nacional de Salud del Niño Breña from 2015-2022. All patients with CNVs involving the CATSPER2 and STRC genes were included, and the frequencies of carriers and affected patients were determined using Hardy‒Weinberg equilibrium. Relative frequency differences were calculated using the chi-square test with goodness-of-fit for natural regions and poverty groups in Peru. 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