{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T03:31:57Z","timestamp":1785209517817,"version":"3.55.0"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5,1]]},"abstract":"\nObjective<\/jats:title>\nTo describe clinical, laboratory, and genetic characteristics of three unrelated cases from Chile, Portugal, and Saudi Arabia with severe insulin resistance, SOFT syndrome, and biallelic pathogenic POC1A<\/jats:italic> variants.<\/jats:p>\n<\/jats:sec>\n\nDesign<\/jats:title>\nObservational study.<\/jats:p>\n<\/jats:sec>\n\nMethods<\/jats:title>\nProbands\u2019 phenotypes, including short stature, dysmorphism, and insulin resistance, were compared with previous reports.<\/jats:p>\n<\/jats:sec>\n\nResults<\/jats:title>\nCases 1 (female) and 3 (male) were homozygous for known pathogenic POC1A<\/jats:italic> variants: c.649C>T, p.(Arg217Trp) and c.241C>T, p.(Arg81*), respectively. Case 2 (male) was compound heterozygous for p.(Arg217Trp) variant and the rare missense variant c.370G>A, p.(Asp124Asn). All three cases exhibited severe insulin resistance, acanthosis nigricans, elevated serum triglycerides and decreased HDL, and fatty liver, resembling three previously reported cases. All three also reported severe muscle cramps. Aggregate analysis of the six known cases with biallelic POC1A<\/jats:italic> variants and insulin resistance showed decreased birth weight and length mean (s.d.<\/jats:sc>): \u22122.8 (0.9) and \u22123.7 (0.9) SDS, respectively), severe short stature mean (s.d.<\/jats:sc>) height: \u22124.9 (1.7) SDS) and moderate microcephaly (mean occipitofrontal circumference \u22123.0 (range: \u22124.7 to \u22121.2)). These findings were similar to those reported for patients with SOFT syndrome without insulin resistance. Muscle biopsy in Case 3 showed features of muscle involvement secondary to a neuropathic process.<\/jats:p>\n<\/jats:sec>\n\nConclusions<\/jats:title>\nPatients with SOFT syndrome can develop severe dyslipidaemic insulin resistance, independent of the exonic position of the POC1A<\/jats:italic> variant. They also can develop severe muscle cramps. After diagnosis, patients should be regularly screened for insulin resistance and muscle complaints.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-21-0609","type":"journal-article","created":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T11:44:14Z","timestamp":1646221454000},"page":"543-552","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":7,"title":["Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps"],"prefix":"10.1093","volume":"186","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2287-0181","authenticated-orcid":true,"given":"Veronica","family":"Mericq","sequence":"first","affiliation":[{"name":"Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile"},{"name":"Department of Pediatrics, Clinica Las Condes, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Huang-Doran","sequence":"additional","affiliation":[{"name":"University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhekra","family":"Al-Naqeb","sequence":"additional","affiliation":[{"name":"Department of Medicine, Medical Genetic Clinic, Sultan Bin Abdulaziz Humanitarian City, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javiera","family":"Basaure","sequence":"additional","affiliation":[{"name":"Complejo Asistencial Dr. Sotero del Rio, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Castiglioni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Clinica Las Condes, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiaan","family":"de Bruin","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children\u2019s Hospital, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Hendriks","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Genetics and Rare Diseases Research Division, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Losekoot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Rubeaan","sequence":"additional","affiliation":[{"name":"Research and Scientific Centre Director, Sultan Bin Abdulaziz Humanitarian City, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6539-3069","authenticated-orcid":true,"given":"Robert K","family":"Semple","sequence":"additional","affiliation":[{"name":"Center for Cardiovascular Science, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M","family":"Wit","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children\u2019s Hospital, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"bib1","series-title":"American Journal of Human Genetics","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/j.ajhg.2012.06.003","article-title":"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation","volume":"91","author":"Sarig","year":"2012","unstructured":"Sarig ONahum SRapaport DIshida-Yamamoto AFuchs-Telem DQiaoli LCohen-Katsenelson KSpiegel RNousbeck JIsraeli SShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. 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