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UK","doi-asserted-by":"crossref","award":["ST_001_20171120"],"award-info":[{"award-number":["ST_001_20171120"]}],"id":[{"id":"10.13039\/501100000291","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012357","name":"LifeArc","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012357","id-type":"DOI","asserted-by":"crossref"}]},{"name":"MRC","award":["MR\/Y007808\/1"],"award-info":[{"award-number":["MR\/Y007808\/1"]}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:sec>\n                    <jats:title>Key Points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>\n                            Loss-of-function\n                            <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                            and\n                            <jats:italic toggle=\"yes\">ALG9<\/jats:italic>\n                            variants were enriched in polycystic kidney\/liver groups and International Classification of Diseases\u2013coded cystic individuals in population cohorts.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>The ALG8 and ALG9 kidney phenotypes were usually mild to moderate, and lower eGFR or kidney failure was rare.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                            pathogenic variants sometimes resulted in severe polycystic liver disease.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited nephropathy often resulting in kidney failure. It is genetically heterogeneous; along with the major genes,\n                      <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">PKD2<\/jats:italic>\n                      , at least eight others have been suggested.\n                      <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                      pathogenic variants have been associated with autosomal dominant polycystic liver disease and implicated in ADPKD, while\n                      <jats:italic toggle=\"yes\">ALG9<\/jats:italic>\n                      has been suggested as an ADPKD gene, but details of the phenotypes and penetrance are unclear.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We screened &gt;3900 families with cystic kidneys and\/or livers using global approaches to detect\n                      <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">ALG9<\/jats:italic>\n                      pathogenic variants. In addition, population cohorts with sequence data (Genomics England 100K Genomics Project, UK Biobank, and Mayo Clinic Biobank [MCBB]) were screened for\n                      <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                      \/\n                      <jats:italic toggle=\"yes\">ALG9<\/jats:italic>\n                      pathogenic variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Multicenter screening of individuals with polycystic kidney and\/or liver disease identified 51 (1.3%) ALG8 (7 multiplex) and 23 (0.6%) ALG9 (5 multiplex) families\u2014frequencies that were approximately 10\u00d7 and approximately 24\u00d7 greater than nonpolycystic kidney disease controls. Analysis of individuals with polycystic kidney disease phenotypes in 100K Genomics Project, UK Biobank, and MCBB identified nine ALG8 (0.39%) and nine ALG9 (0.39%) families, an enriched frequency over controls. Two individuals had\n                      <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                      pathogenic changes. Eighty-nine percent of individuals with ALG8 mutations with imaging in the entire MCBB had kidney cysts (50%, &gt;10 cysts), with greater median kidney and liver cyst numbers than controls. For ALG9, 78% had kidney cysts (27%, &gt;10 cysts). Individuals with ALG8 mutations typically had mild cystic kidneys with limited enlargement. Liver cysts were common (71%), with enlarged livers (&gt;2L) found in 11 of 62 patients, although surgical intervention was rare. The ALG9 kidney phenotype was also of mild cystic kidneys, but enlarged livers were rare; for both genes, CKD or kidney failure were rare.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">ALG8<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">ALG9<\/jats:italic>\n                      are defined as cystic kidney\/liver genes but with limited penetrance for lower eGFR.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.0000000613","type":"journal-article","created":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T12:03:51Z","timestamp":1738584231000},"page":"1056-1071","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":18,"title":["Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants"],"prefix":"10.1681","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6742-1422","authenticated-orcid":false,"given":"Tabinda","family":"Jawaid","sequence":"first","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6487-8312","authenticated-orcid":false,"given":"Doaa E.","family":"Elbarougy","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7840-3852","authenticated-orcid":false,"given":"Sravanthi","family":"Lavu","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Buia","sequence":"additional","affiliation":[{"name":"Inserm, UMR 1078, GGB, CHU Brest, University of Brest, Brest, France"},{"name":"Centre de R\u00e9f\u00e9rences Maladies R\u00e9nales H\u00e9r\u00e9diatires de l\u2019Enfant et de l\u2019Adulte MARHEA, Fili\u00e8re ORKID, CHU, Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5489-9117","authenticated-orcid":false,"given":"Sarah R.","family":"Senum","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1178-7980","authenticated-orcid":false,"given":"Eric","family":"Olinger","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, 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Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0224-6174","authenticated-orcid":false,"given":"Rachel S.","family":"Schauer","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0620-3968","authenticated-orcid":false,"given":"Tracy A.","family":"Baker","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9760-5302","authenticated-orcid":false,"given":"Adriana V.","family":"Gregory","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, 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Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Joli","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"IRCCS San Raffaele Scientific Institute, University Vita Salute San Raffaele, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5809-9961","authenticated-orcid":false,"given":"Neera K.","family":"Dahl","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-9853","authenticated-orcid":false,"given":"Timothy L.","family":"Kline","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3319-5233","authenticated-orcid":false,"given":"Valentine","family":"Gillion","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium"},{"name":"Recherche Exp\u00e9rimentale et Clinique, UCLouvain, Brussels, Belgium"},{"name":"European Reference Network for Rare Kidney Diseases (ERKNet), Center of Human Genetics, Charleroi, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Dahan","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Kidney Diseases (ERKNet), Center of Human Genetics, Charleroi, Belgium"},{"name":"Institute Pathology and Genetic, Center of Human Genetics, Charleroi, 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Medicine and RICORS-2040 (Kidney Disease), University of Oviedo, Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3949-5720","authenticated-orcid":false,"given":"Fouad T.","family":"Chebib","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Jacksonville, Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3031-8522","authenticated-orcid":false,"given":"Marie C.","family":"Hogan","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4944-7789","authenticated-orcid":false,"given":"Janet E.","family":"Olson","sequence":"additional","affiliation":[{"name":"Division of Epidemiology, Mayo Clinic, Rochester, 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\u2013 Universit\u00e4tsmedizin Berlin, Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, Germany"},{"name":"Division of Nephrology, Department of Internal Medicine, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3566-3950","authenticated-orcid":false,"given":"Nathalie","family":"Demoulin","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium"},{"name":"Recherche Exp\u00e9rimentale et Clinique, UCLouvain, Brussels, Belgium"},{"name":"European Reference Network for Rare Kidney Diseases (ERKNet), Center of Human Genetics, Charleroi, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2008-1576","authenticated-orcid":false,"given":"Vicente E.","family":"Torres","sequence":"additional","affiliation":[{"name":"Division of 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de l\u2019Adulte MARHEA, Fili\u00e8re ORKID, CHU, Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5304-6593","authenticated-orcid":false,"given":"Peter C.","family":"Harris","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota"},{"name":"Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,2,3]]},"reference":[{"issue":"9569","key":"B1-20260218","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0140-6736(07)60601-1","article-title":"Autosomal 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