{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T03:31:56Z","timestamp":1785209516238,"version":"3.55.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,1,20]],"date-time":"2024-01-20T00:00:00Z","timestamp":1705708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["EQU201903007868"],"award-info":[{"award-number":["EQU201903007868"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["EQU202003010517"],"award-info":[{"award-number":["EQU202003010517"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["R18139DD"],"award-info":[{"award-number":["R18139DD"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-CE18-0002-01"],"award-info":[{"award-number":["ANR-21-CE18-0002-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome caused by biallelic variants in POC1A, encoding a centriolar protein. SOFT syndrome, characterized by severe growth failure of prenatal onset and dysmorphic features, was recently associated with insulin resistance. This study aims to further explore its endocrinological features and pathophysiological mechanisms.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design\/Methods<\/jats:title>\n                  <jats:p>We present clinical, biochemical, and genetic features of 2 unrelated patients carrying biallelic pathogenic POC1A variants. Cellular models of the disease were generated using patients' fibroblasts and POC1A-deleted human adipose stem cells.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Both patients present with clinical features of SOFT syndrome, along with hyperinsulinemia, diabetes or glucose intolerance, hypertriglyceridemia, liver steatosis, and central fat distribution. They also display resistance to the effects of IGF-1. Cellular studies show that the lack of POC1A protein expression impairs ciliogenesis and adipocyte differentiation, induces cellular senescence, and leads to resistance to insulin and IGF-1. An altered subcellular localization of insulin receptors and, to a lesser extent, IGF1 receptors could also contribute to resistance to insulin and IGF1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Severe growth retardation, IGF-1 resistance, and centripetal fat repartition associated with insulin resistance-related metabolic abnormalities should be considered as typical features of SOFT syndrome caused by biallelic POC1A null variants. Adipocyte dysfunction and cellular senescence likely contribute to the metabolic consequences of POC1A deficiency. SOFT syndrome should be included within the group of monogenic ciliopathies with metabolic and adipose tissue involvement, which already encompasses Bardet-Biedl and Alstr\u00f6m syndromes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvae009","type":"journal-article","created":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T01:35:13Z","timestamp":1705800913000},"page":"151-164","source":"Crossref","is-referenced-by-count":9,"title":["Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling"],"prefix":"10.1093","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6527-805X","authenticated-orcid":false,"given":"Kevin","family":"Perge","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism Department, Femme M\u00e8re Enfant Hospital, Hospices Civils de Lyon , Bron F69500 , France"},{"name":"Claude Bernard University, Lyon 1 , Lyon F69100 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Capel","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Villanueva","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism Department, Femme M\u00e8re Enfant Hospital, Hospices Civils de Lyon , Bron F69500 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00e9mie","family":"Gautheron","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safiatou","family":"Diallo","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Auclair","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Rondeau","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Assistance Publique-H\u00f4pitaux de Paris, Necker Enfants Malades Hospital , Paris F75015 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Morichon","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"},{"name":"Cytometry and Imagery platform Saint-Antoine (CISA), Inserm UMS30 Lumic , Paris F75012 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Brioude","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"},{"name":"Department of Molecular Biology and Genetics, Assistance Publique-H\u00f4pitaux de Paris, Armand Trousseau University Hospital , Paris F75012 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"J\u00e9ru","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"},{"name":"Department of Molecular Biology and Genetics, Assistance Publique-H\u00f4pitaux de Paris, Saint-Antoine University Hospital , Paris F75012 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliamo","family":"Rossi","sequence":"additional","affiliation":[{"name":"Genetics Department, Referral Center for Skeletal Dysplasias, Femme M\u00e8re Enfant Hospital, Hospices Civils de Lyon , Lyon F69500 , France"},{"name":"UMR5292, Lyon Neuroscience Research Center, INSERM U1028, CNRS, GENDEV Team , Bron F69500 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Nicolino","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Diabetology and Metabolism Department, Femme M\u00e8re Enfant Hospital, Hospices Civils de Lyon , Bron F69500 , France"},{"name":"Claude Bernard University, Lyon 1 , Lyon F69100 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8181-4721","authenticated-orcid":false,"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, Saint-Antoine Research Centre , and Institute of Cardiometabolism and Nutrition, F75012 Paris , France"},{"name":"Department of Molecular Biology and Genetics, Assistance Publique-H\u00f4pitaux de Paris, Saint-Antoine University Hospital , Paris F75012 , France"},{"name":"Department of Endocrinology, Diabetology and Reproductive Endocrinology, Assistance Publique-H\u00f4pitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) , Paris F75012 , 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