{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:21:24Z","timestamp":1777508484525,"version":"3.51.4"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T00:00:00Z","timestamp":1655078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes. It is caused by truncating variants in the <jats:italic>LMX1B<\/jats:italic> gene, which encodes a transcription factor with important roles during embryonic development, including dorsoventral patterning of the limbs. To our knowledge, inversions disrupting the <jats:italic>LMX1B<\/jats:italic> gene have not been reported. Here, we report a family with an inversion disrupting the <jats:italic>LMX1B<\/jats:italic> gene in five affected family members with mild but variable clinical features of NPS. Our finding demonstrates that genomic rearrangements must be considered a possible cause of NPS.<\/jats:p>","DOI":"10.3389\/fendo.2022.862908","type":"journal-article","created":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T12:42:16Z","timestamp":1655124136000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up"],"prefix":"10.3389","volume":"13","author":[{"given":"Hillevi","family":"Lindel\u00f6f","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Horemuzova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrika","family":"Voss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giedre","family":"Grigelioniene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Hammarsj\u00f6","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.153","article-title":"Nail Patella Syndrome: A Review of the Phenotype Aided by Developmental Biology","volume":"40","author":"Sweeney","year":"2003","journal-title":"J Med Genet"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201446","article-title":"Genotype-Phenotype Studies in Nail-Patella Syndrome Show That LMX1B Mutation Location is Involved in the Risk of Developing Nephropathy","volume":"13","author":"Bongers","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8817.2005.00191.x","article-title":"Nail Patella Syndrome Revisited: 50 Years After Linkage","volume":"69","author":"McIntosh","year":"2005","journal-title":"Ann Hum Genet"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2004.06.002","article-title":"The Human LMX1B Gene: Transcription Unit, Promoter, and Pathogenic Mutations","volume":"84","author":"Dunston","year":"2004","journal-title":"Genomics"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e21afa","article-title":"A Spectrum of LMX1B Mutations in Nail-Patella Syndrome: New Point Mutations, Deletion, and Evidence of Mosaicism in Unaffected Parents","volume":"12","author":"Marini","year":"2010","journal-title":"Genet Med"},{"key":"B6","first-page":"1","article-title":"Use of World Health Organization and CDC Growth Charts for Children Aged 0-59 Months in the United States","volume":"59","author":"Grummer-Strawn","year":"2010","journal-title":"MMWR Recomm Rep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s13073-021-00855-5","article-title":"Integration of Whole Genome Sequencing Into a Healthcare Setting: High Diagnostic Rates Across Multiple Clinical Entities in 3219 Rare Disease Patients","volume":"13","author":"Stranneheim","year":"2021","journal-title":"Genome Med"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-002-0911-5","article-title":"Nail-Patella Syndrome. Overview on Clinical and Molecular Findings","volume":"17","author":"Bongers","year":"2002","journal-title":"Pediatr Nephrol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/ejhg.2015.77","article-title":"Nail-Patella Syndrome: Clinical and Molecular Data in 55 Families Raising the Hypothesis of a Genetic Heterogeneity","volume":"24","author":"Ghoumid","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0655-3","article-title":"Clinical and Genetic Characterization of Nephropathy in Patients With Nail-Patella Syndrome","volume":"28","author":"Harita","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3815","article-title":"Germline Mutations in ABL1 Cause an Autosomal Dominant Syndrome Characterized by Congenital Heart Defects and Skeletal Malformations","volume":"49","author":"Wang","year":"2017","journal-title":"Nat Genet"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2022.862908\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T12:42:18Z","timestamp":1655124138000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2022.862908\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,13]]},"references-count":11,"alternative-id":["10.3389\/fendo.2022.862908"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2022.862908","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,13]]},"article-number":"862908"}}