Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome

Claudia Valencia-Peña; Paula Jiménez-Sanchez; Wilmar Saldarriaga; César Payán-Gómez

doi:10.1186/s12886-020-01603-w

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome

Título traducido de la contribución: Coloboma del nervio óptico como extensión del fenotipo 22q11. 23 síndrome de duplicación

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

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Resumen

El síndrome de duplicación 22q11.2 (Dup22q11.2) tiene penetrancia reducida y expresividad variable. Los afectados pueden presentar discapacidad intelectual, rasgos faciales dismórficos y alteraciones oculares como ptosis, hipertelorismo, nistagmo y coloboma coriorretiniano. Se desconoce la prevalencia de este síndrome, solo se reportan aproximadamente 100 casos. Sin embargo, Dup22q11.2 debería tener una prevalencia similar del síndrome de DiGeorge (1 de cada 4000 recién nacidos), en el que se elimina la misma región cromosómica que está duplicada en Dup22q11.2. Se reporta un paciente con discapacidad intelectual, retraso en el desarrollo psicomotor, hipoacusia con pronunciación única en sílabas, hiperactividad, autolesiones, comportamiento hetero-agresivo, dismorfismo facial, parálisis facial izquierda, polidactilia post-axial, y por primera vez en pacientes con Dup22q11.2, coloboma del nervio óptico y displasia en nervio óptico. La hibridación genómica comparativa de matrices mostró una duplicación 22q11.23 de 1.306 millones de pares de bases. Aquí se informan nuevos hallazgos oculares en el síndrome Dup22q11.2, como coloboma y displasia en el nervio óptico, que contribuyen a la caracterización fenotípica de un síndrome genético rara vez diagnosticado. Es necesaria una caracterización completa del fenotipo para incrementar la tasa de sospecha clínica y luego el diagnóstico genético. Además, a través del análisis bioinformático de los genes mapeados en la región 22q11.2, se propone que la desregulación del gen SPECC1L podría estar implicada en el desarrollo del coloboma ocular.

Título traducido de la contribución	Coloboma del nervio óptico como extensión del fenotipo 22q11. 23 síndrome de duplicación
Idioma original	Inglés estadounidense
Número de artículo	333
Publicación	BMC Ophthalmology
Volumen	20
N.º	1
DOI	https://doi.org/10.1186/s12886-020-01603-w
Estado	Publicada - ago. 17 2020

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Oftalmología

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title = "Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome",

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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AU - Valencia-Peña, Claudia

AU - Jiménez-Sanchez, Paula

AU - Saldarriaga, Wilmar

AU - Payán-Gómez, César

PY - 2020/8/17

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N2 - 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.

AB - 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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Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome

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