Axenfeld-Rieger syndrome: A case report

Chekhchar, M; Charadi, A; Achibane, A.; Hajji, I; Moutaouakil, A

doi:10.1016/j.jfo.2018.08.014

Cited by 5 publications

(7 citation statements)

References 2 publications

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“…Structure of the anterior segment was affected which is characterized by pupil deformity in both eyes. Apart from pupil deformity (corectopia), patients with ARS may have various anterior segment abnormalities such as posterior embryotoxon, iris stromal hypoplasia, pseudopolycoria and angle closure [ 22 , 23 ]. Among them, destruction of the chamber angle often leads to secondary glaucoma.…”

Section: Discussionmentioning

confidence: 99%

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

Wang

Li³

et al. 2021

BMC Med Genomics

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Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, clinical diagnosis presents a huge challenge. In this study, we described a pathogenic in-frame variant in FOXC1 in one 5-year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3 bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Furthermore, Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linke to the FOXC1 variant and is coincidental. Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

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Section: Discussionmentioning

confidence: 99%

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

Wang

Li³

et al. 2021

BMC Med Genomics

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show abstract

“…Structures of the anterior segment was affected which is characterized by pupil deformity in both eyes. Apart from pupil deformity (corectopia), patients with ARS may have various anterior segment abnormalities such as posterior embryotoxon, iris stromal hypoplasia, pseudopolycoria and angle closure [21,22]. Among them, destruction of the chamber angle often leads to secondary glaucoma.…”

Section: Discussionmentioning

confidence: 99%

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger Syndrome

Wang

Wang²,

Li³

et al. 2021

Preprint

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Background Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, therefore, clinical diagnosis present a huge challenge. Results In this study, we described a pathogenic variant in FOXC1 in one 5 year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linked to the FOXC1 variant and is coincidental. Conclusions Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

show abstract

“…Systemic developmental abnormalities in ARS includes cardiac malformations, non-involution of periumbilical skin, craniofacial dysmorphy (hypertelorism, telecanthus, maxillary hypoplasia),dental malformations (microdontia, hypodontia, oligodontia, anodontia). Anal stenosis, hypospadias, pituitary gland abnormalities, arachnoid cysts, growth retardation can also be seen [4][5].…”

Section: Discussionmentioning

confidence: 99%