{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:28:39Z","timestamp":1790652519829,"version":"4.1.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T00:00:00Z","timestamp":1623715200000},"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>A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C&amp;gt;T) in the<jats:italic>INPP5E<\/jats:italic>gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1<jats:sup>st<\/jats:sup>decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.<\/jats:p>","DOI":"10.3389\/fendo.2021.581134","type":"journal-article","created":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T08:37:55Z","timestamp":1623746275000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient"],"prefix":"10.3389","volume":"12","author":[{"given":"Ana","family":"Drole Torkar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Avbelj Stefanija","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bertok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Trebu\u0161ak Podkraj\u0161ek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maru\u0161a","family":"Debeljak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Branislava","family":"Stirn Kranjc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Primo\u017e","family":"Kotnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,6,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.03.008","article-title":"The Hunger Genes: Pathways to Obesity","volume":"161","author":"van der Klaauw","year":"2015","journal-title":"Cell"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1512693","article-title":"Proopiomelanocortin Deficiency Treated With a Melanocortin-4 Receptor Agonist","volume":"375","author":"K\u00fchnen","year":"2016","journal-title":"N Engl J Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1042\/BJ20081673","article-title":"The Role of the Inositol Polyphosphate 5-Phosphatases in Cellular Function and Human Disease","volume":"419","author":"Ooms","year":"2009","journal-title":"Biochem J"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M000874200","article-title":"Cloning and Characterisation of a 72-kDa Inositol-Polyphosphate 5-Phosphatase Localised to the Golgi Network","volume":"275","author":"Kong","year":"2000","journal-title":"J Biol Chem"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1038\/ng.427","article-title":"INPP5E Mutations Cause Primary Cilium Signaling Defects, Ciliary Instability and Ciliopathies in Human and Mouse","volume":"41","author":"Jacoby","year":"2009","journal-title":"Nat Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1032","DOI":"10.1038\/ng.423","article-title":"Mutations in INPP5E, Encoding Inositol Polyphosphate-5-Phosphatase E, Link Phosphatidyl Inositol Signaling to the Ciliopathies","volume":"41","author":"Bielas","year":"2009","journal-title":"Nat Genet"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.305","article-title":"Phenotypic Spectrum and Prevalence of INPP5E Mutations in Joubert Syndrome and Related Disorders","volume":"21","author":"Travaglini","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.161323","article-title":"INPP5E Interacts With AURKA, Linking Phosphoinositide Signalling to Primary Cilium Stability","volume":"128","author":"Plotnikova","year":"2015","journal-title":"J Cell Sci"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.008","article-title":"The Primary Cilium as a Cellular Signalling Center: Lessons From Disease","volume":"19","author":"Lancaster","year":"2009","journal-title":"Curr Opin Genet Dev"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2015.06.016","article-title":"Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output","volume":"34","author":"Ch\u00e1vez","year":"2015","journal-title":"Cell"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610","article-title":"The Ciliopathies: An Emerging Class of Human Genetic Disorders","volume":"7","author":"Badano","year":"2006","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2012.07.037","article-title":"Inositol Polyphosphate 5-Phosphatases; New Players in the Regulation of Cilia and Ciliopathies","volume":"586","author":"Conduit","year":"2012","journal-title":"FEBS Lett"},{"key":"B13","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1038\/sj.ejhg.5201577","article-title":"MORM Syndrome (Mental Retardation, Truncal Obesity, Retinal Dystrophy and Micropenis), A New Autosomal Recessive Disorder, Links to 9q34","volume":"14","author":"Hampshire","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"B14","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/978-1-4614-8642-8_2","article-title":"Genetic Obesity Syndromes","volume-title":"The Genetics of Obesity","author":"Farooqi","year":"2014"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13574","article-title":"Biomarkers of Ovarian Reserve in Childhood and Adolescence: A Systematic Review","volume":"98","author":"Bhide","year":"2019","journal-title":"Acta Obstet Gynecol Scand"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fendo.2020.00200","article-title":"The Bones of Children With Obesity","volume":"11","author":"Fintini","year":"2020","journal-title":"Front Endocrinol"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(98)97033-6","article-title":"Alstr\u00f6m Syndrome: Report of 22 Cases and Literature Review","volume":"105","author":"Russell-Eggitt","year":"1998","journal-title":"Ophthalmology"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0","article-title":"Cohen Syndrome: Essential Features, Natural History, and Heterogeneity","volume":"102","author":"Kivitie-Kallio","year":"2001","journal-title":"Am J Med Genet"},{"key":"B19","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.36.6.437","article-title":"New Criteria for Improved Diagnosis of Bardet \u2013Biedl Syndrome: Results of a Population Survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075028","article-title":"Search for the Best Indicators for the Presence of a VPS13B Gene Mutation and Confirmation of Diagnostic Criteria in a Series of 34 Patients Genotyped for Suspected Cohen Syndrome","volume":"47","author":"El Chehadeh","year":"2010","journal-title":"J Med Genet"},{"key":"B21","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/1750-1172-5-20","article-title":"Joubert Syndrome and Related Disorders","volume":"5","author":"Brancati","year":"2010","journal-title":"Orphanet J Rare Dis"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2021.581134\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,31]],"date-time":"2022-12-31T04:53:37Z","timestamp":1672462417000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2021.581134\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,15]]},"references-count":21,"alternative-id":["10.3389\/fendo.2021.581134"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2021.581134","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,15]]},"article-number":"581134"}}