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BMC Ophthalmology

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01-12-2020 | Disorders of Intellectual Development | Case report

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report

Authors: Claudia Valencia-Peña, Paula Jiménez-Sanchez, Wilmar Saldarriaga, César Payán-Gómez

Published in: BMC Ophthalmology | Issue 1/2020

Abstract

Background

22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted.

Case presentation

We report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydactyly, and for the first time in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve. Array comparative genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs.

Conclusions

New ocular findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported here, contributing to the phenotypic characterization of a rarely diagnosed genetic syndrome. A complete characterization of the phenotype is necessary to increase the rate of clinical suspicion and then the genetic diagnostic. In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.

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Title: Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
Authors: Claudia Valencia-Peña
Paula Jiménez-Sanchez
Wilmar Saldarriaga
César Payán-Gómez
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Disorders of Intellectual Development
Intellectual Disability
Published in: BMC Ophthalmology / Issue 1/2020
Electronic ISSN: 1471-2415
DOI: https://doi.org/10.1186/s12886-020-01603-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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