Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
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 o...
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| Format: | Article |
| Language: | English |
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BMC
2020-08-01
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| Series: | BMC Ophthalmology |
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| Online Access: | http://link.springer.com/article/10.1186/s12886-020-01603-w |
| _version_ | 1819195724374474752 |
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| author | Claudia Valencia-Peña Paula Jiménez-Sanchez Wilmar Saldarriaga César Payán-Gómez |
| author_facet | Claudia Valencia-Peña Paula Jiménez-Sanchez Wilmar Saldarriaga César Payán-Gómez |
| author_sort | Claudia Valencia-Peña |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-23T02:17:18Z |
| format | Article |
| id | doaj.art-5ff23769afae48f892cd3e880a9f39fb |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-12-23T02:17:18Z |
| publishDate | 2020-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-5ff23769afae48f892cd3e880a9f39fb2022-12-21T18:03:37ZengBMCBMC Ophthalmology1471-24152020-08-012011710.1186/s12886-020-01603-wOptic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case reportClaudia Valencia-Peña0Paula Jiménez-Sanchez1Wilmar Saldarriaga2César Payán-Gómez3Department of Ophthalmology, Faculty of Health, Universidad del ValleMedical and surgery student, Universidad del ValleDepartments of Morphology and Gynaecology and Obstetrics, Universidad del ValleDepartment of Biology, Faculty of Natural Sciences, Universidad del RosarioAbstract 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.http://link.springer.com/article/10.1186/s12886-020-01603-wColoboma of optic nerveDuplication 22q11 q13BioinformaticsArray comparative genomic hybridizationCase report |
| spellingShingle | Claudia Valencia-Peña Paula Jiménez-Sanchez Wilmar Saldarriaga César Payán-Gómez Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report BMC Ophthalmology Coloboma of optic nerve Duplication 22q11 q13 Bioinformatics Array comparative genomic hybridization Case report |
| title | Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report |
| title_full | Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report |
| title_fullStr | Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report |
| title_full_unstemmed | Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report |
| title_short | Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report |
| title_sort | optic nerve coloboma as extension of the phenotype of 22q11 23 duplication syndrome a case report |
| topic | Coloboma of optic nerve Duplication 22q11 q13 Bioinformatics Array comparative genomic hybridization Case report |
| url | http://link.springer.com/article/10.1186/s12886-020-01603-w |
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