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The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>128 individuals with causative variants in <jats:italic>PITX2<\/jats:italic> or <jats:italic>FOXC1<\/jats:italic>, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for <jats:italic>FOXC1<\/jats:italic>-related ARS. Systemic anomalies were seen in all individuals with <jats:italic>PITX2<\/jats:italic>-related ARS and the majority of those with <jats:italic>FOXC1<\/jats:italic>-related ARS. <jats:italic>PITX2<\/jats:italic>-related ARS demonstrated typical umbilical anomalies and dental microdontia\/hypodontia\/oligodontia, along with a novel high rate of Meckel diverticulum. <jats:italic>FOXC1<\/jats:italic>-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and\/or crowding, a range of skeletal and joint anomalies, hypotonia\/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly\/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of <jats:italic>FOXC1<\/jats:italic>-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, <jats:italic>PITX2<\/jats:italic>-related ARS or <jats:italic>FOXC1<\/jats:italic>-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108646","type":"journal-article","created":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T01:43:51Z","timestamp":1658972631000},"page":"368-379","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":79,"title":["Axenfeld-Rieger syndrome: more than meets the eye"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5098-6336","authenticated-orcid":false,"given":"Linda M.","family":"Reis","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohit","family":"Maheshwari","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenina","family":"Capasso","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Golisano Children\u2019s Hospital and University of Rochester, Rochester, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huban","family":"Atilla","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Ankara University, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubica","family":"Dudakova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lia","family":"Zitano","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Spectrum Health, Grand Rapids, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Lay-Son","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, Divisi\u00f3n de Pediatr\u00eda, Facultad de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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