{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:45Z","timestamp":1786976805084,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T00:00:00Z","timestamp":1649289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Aarskog\u2013Scott syndrome (AAS) is a developmental disorder, caused by disease\u2010causing hemizygous variants in the\n                    <jats:italic>FGD1<\/jats:italic>\n                    gene. AAS is characterized by dysmorphic features, genital malformation, skeletal anomalies, and in some cases, intellectual disability and behavioral difficulties. Myopathy has only been reported once in two affected siblings diagnosed with AAS. Only few adult cases have been reported. This article reports four adults with AAS (three male cases and one female carrier) from two unrelated Danish families, all males presented with variable features suggestive of myopathy. All four carried novel hemizygous pathogenic variants in the\n                    <jats:italic>FGD1<\/jats:italic>\n                    gene; one family presented with the c.2266dup, p.Cys756Leufs*19 variant while the c.527dup; p.Leu177Thrfs*40 variant was detected in the second family. All males had some mild myopathic symptoms or histological abnormalities. Case 1 had the most severe myopathic phenotype with prominent proximal muscular fatigue and exercise intolerance. In addition, he had multiple deletions of mtDNA and low respiratory chain activity. His younger nephew, case 3, had difficulties doing sports in his youth and had a mildly abnormal muscle biopsy and relatively decreased mitochondrial enzyme activity. The singular case from family 2 (case 4), had a mildly myopathic muscle biopsy, but no overt myopathic symptoms. Our findings suggest that myopathic involvement should be considered in AAS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62753","type":"journal-article","created":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T03:37:26Z","timestamp":1649302646000},"page":"2251-2257","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel truncating variants in\n                    <scp>\n                      <i>FGD1<\/i>\n                    <\/scp>\n                    detected in two Danish families with\n                    <scp>Aarskog\u2013Scott<\/scp>\n                    syndrome and myopathic features"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3522-9767","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"first","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Institute for Regional Health Services University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f8rg","family":"Krett","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Molecular Genetic Laboratory University Hospital Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille Mathiesen","family":"Torring","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835b6dc4"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0233"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22252"},{"issue":"5","key":"e_1_2_10_5_1","first-page":"691","article-title":"The first Korean family with Aarskog\u2013Scott syndrome harboring a novel mutation in FGD1 diagnosed via targeted gene panel sequencing","volume":"50","author":"Bae G. 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