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Axenfeld-Rieger syndrome: more than meets the eye by Linda M. Reis; Mohit Maheshwari; Jenina Capasso; Huban Atilla; Lubica Dudakova; Samuel Thompson; Lia Zitano; Guillermo Lay-Son; R. Brian Lowry; Jennifer Black; Joseph Lee; Ann Shue; Radka Kremlikova Pourova; Manuela Vaneckova; Pavlina Skalicka; Jana Jedlickova; Marie Trkova; Bradley Williams; Gabriele Richard; Kristine Bachman; Andrea H. Seeley; Deborah Costakos; Thomas M Glaser; Alex V. Levin; Petra Liskova; Jeffrey C. Murray; Elena V. Semina is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Axenfeld-Rieger syndrome: more than meets the eye about?

## Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition. ## Methods Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses. ## Results 128 individuals with causative variants in __PITX2__ or __FOXC1__, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for __FOXC1__-related ARS. Systemic anomalies were seen in all individuals with __PITX2__-related ARS and the majority of those with __FOXC1__-related ARS. __PITX2__-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. __FOXC1__-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 ano

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Author

Linda M. Reis; Mohit Maheshwari; Jenina Capasso; Huban Atilla; Lubica Dudakova; Samuel Thompson; Lia Zitano; Guillermo Lay-Son; R. Brian Lowry; Jennifer Black; Joseph Lee; Ann Shue; Radka Kremlikova Pourova; Manuela Vaneckova; Pavlina Skalicka; Jana Jedlickova; Marie Trkova; Bradley Williams; Gabriele Richard; Kristine Bachman; Andrea H. Seeley; Deborah Costakos; Thomas M Glaser; Alex V. Levin; Petra Liskova; Jeffrey C. Murray; Elena V. Semina

Publisher

BMJ

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)