Ocular manifestations of Emanuel syndrome. Issue 9 (4th September 2018)

• Record Type: Journal Article
• Authors: Saffren, Brooke D.; Capasso, Jenina E.; Zanolli, Mario; Levin, Alex V.
• Is Part Of: American journal of medical genetics. Volume 176:Issue 9(2018)
• Page Start: 1964
• Page End: 1967
• Publication Date: 2018-09-04
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.40361
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36‐year‐old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Microarray analysis results included 47, XY, +der(22)t(11;22)(q23;q11.2), and a 269 kb deletion of 7q31.33(125, 898, 014‐126, 166, 829). Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a GRM8 deletion on chromosome 7, which may cause glutamate‐induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype. We provide the first detailed description these ocular abnormalities in a patient with Emmanuel syndrome.