Copy number variation in development disorders, malformative syndrome and short stature in Peru
Descripción del Articulo
Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndro...
Autores: | , , , , , , , , , |
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Formato: | artículo |
Fecha de Publicación: | 2020 |
Institución: | Colegio Médico del Perú |
Repositorio: | Acta Médica Peruana |
Lenguaje: | español |
OAI Identifier: | oai:ojs.pkp.sfu.ca:article/915 |
Enlace del recurso: | https://amp.cmp.org.pe/index.php/AMP/article/view/915 |
Nivel de acceso: | acceso abierto |
Materia: | Genetic testing Intellectual disability Developmental disabilities Autism spectrum disorder DNA copy number variations |
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oai:ojs.pkp.sfu.ca:article/915 |
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Acta Médica Peruana |
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. |
dc.title.none.fl_str_mv |
Copy number variation in development disorders, malformative syndrome and short stature in Peru Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú |
title |
Copy number variation in development disorders, malformative syndrome and short stature in Peru |
spellingShingle |
Copy number variation in development disorders, malformative syndrome and short stature in Peru Abarca Barriga, Hugo H. Genetic testing Intellectual disability Developmental disabilities Autism spectrum disorder DNA copy number variations |
title_short |
Copy number variation in development disorders, malformative syndrome and short stature in Peru |
title_full |
Copy number variation in development disorders, malformative syndrome and short stature in Peru |
title_fullStr |
Copy number variation in development disorders, malformative syndrome and short stature in Peru |
title_full_unstemmed |
Copy number variation in development disorders, malformative syndrome and short stature in Peru |
title_sort |
Copy number variation in development disorders, malformative syndrome and short stature in Peru |
dc.creator.none.fl_str_mv |
Abarca Barriga, Hugo H. Vásquez Sotomayor, Flor de Milagros Trubnykova, Milana Chavesta Velasquez, Felix Chavez Pastor, Miguel A. Gallardo Jugo, Bertha E. Poterico Rojas, Julio Caballero Bedón, Nathaly La Serna Infantes, Jorge Vasquez Loarte, Tania |
author |
Abarca Barriga, Hugo H. |
author_facet |
Abarca Barriga, Hugo H. Vásquez Sotomayor, Flor de Milagros Trubnykova, Milana Chavesta Velasquez, Felix Chavez Pastor, Miguel A. Gallardo Jugo, Bertha E. Poterico Rojas, Julio Caballero Bedón, Nathaly La Serna Infantes, Jorge Vasquez Loarte, Tania |
author_role |
author |
author2 |
Vásquez Sotomayor, Flor de Milagros Trubnykova, Milana Chavesta Velasquez, Felix Chavez Pastor, Miguel A. Gallardo Jugo, Bertha E. Poterico Rojas, Julio Caballero Bedón, Nathaly La Serna Infantes, Jorge Vasquez Loarte, Tania |
author2_role |
author author author author author author author author author |
dc.subject.none.fl_str_mv |
Genetic testing Intellectual disability Developmental disabilities Autism spectrum disorder DNA copy number variations |
topic |
Genetic testing Intellectual disability Developmental disabilities Autism spectrum disorder DNA copy number variations |
description |
Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were reported in 50.3%. The 53.28% of the cases with a diagnosis of intellectual disability and 47.92% of development delay showed abnormal results; while the children with short stature syndromic, malformative syndrome, and autistic disorders spectrum disorders showed abnormal results in 52.38%, 52% and 20% respectively. Additionally, we found that 6.25% of parents were non-declared consanguinity. Conclusions: Abnormal results found in our study was a higher ratio than other international reports regardless of the clinical diagnosis. Furthermore, we show a most rate of non-declared consanguinity in relation with previous reports. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-07-01 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
https://amp.cmp.org.pe/index.php/AMP/article/view/915 10.35663/amp.2020.372.915 |
url |
https://amp.cmp.org.pe/index.php/AMP/article/view/915 |
identifier_str_mv |
10.35663/amp.2020.372.915 |
dc.language.none.fl_str_mv |
spa |
language |
spa |
dc.relation.none.fl_str_mv |
https://amp.cmp.org.pe/index.php/AMP/article/view/915/438 https://amp.cmp.org.pe/index.php/AMP/article/view/915/456 |
dc.rights.none.fl_str_mv |
Copyright (c) 2020 ACTA MEDICA PERUANA info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2020 ACTA MEDICA PERUANA |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Colegio Médico del Perú |
publisher.none.fl_str_mv |
Colegio Médico del Perú |
dc.source.none.fl_str_mv |
ACTA MEDICA PERUANA; Vol 37 No 2 (2020): April - June ACTA MEDICA PERUANA; Vol. 37 Núm. 2 (2020): Abril - Junio 1728-5917 1018-8800 reponame:Acta Médica Peruana instname:Colegio Médico del Perú instacron:CMP |
instname_str |
Colegio Médico del Perú |
instacron_str |
CMP |
institution |
CMP |
reponame_str |
Acta Médica Peruana |
collection |
Acta Médica Peruana |
repository.name.fl_str_mv |
|
repository.mail.fl_str_mv |
|
_version_ |
1816075103148965888 |
spelling |
Copy number variation in development disorders, malformative syndrome and short stature in PeruVariantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en PerúAbarca Barriga, Hugo H.Vásquez Sotomayor, Flor de MilagrosTrubnykova, MilanaChavesta Velasquez, FelixChavez Pastor, Miguel A.Gallardo Jugo, Bertha E.Poterico Rojas, JulioCaballero Bedón, NathalyLa Serna Infantes, JorgeVasquez Loarte, Tania Genetic testingIntellectual disabilityDevelopmental disabilitiesAutism spectrum disorderDNA copy number variationsObjective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were reported in 50.3%. The 53.28% of the cases with a diagnosis of intellectual disability and 47.92% of development delay showed abnormal results; while the children with short stature syndromic, malformative syndrome, and autistic disorders spectrum disorders showed abnormal results in 52.38%, 52% and 20% respectively. Additionally, we found that 6.25% of parents were non-declared consanguinity. Conclusions: Abnormal results found in our study was a higher ratio than other international reports regardless of the clinical diagnosis. Furthermore, we show a most rate of non-declared consanguinity in relation with previous reports.Objetivo: determinar las variantes en el número de copias y regiones de homocigosidad mediante el análisis cromosómico por micromatrices, en niños con diagnóstico de trastorno del neurodesarrollo: retraso del desarrollo psicomotor (RDPM), discapacidad intelectual (DI) y trastorno del espectro autista (TEA), así como pacientes con síndrome malformativo (SM) y talla baja idiopática (TBI). Materiales y métodos: se evaluaron a 367 niños peruanos diagnosticados clínicamente con DI, RDPM, TEA, TBI y SM a quienes se les realizó el análisis cromosómico por micromatrices (CMA 750K CGH+SNP) en sangre periférica, entre los años 2016-2018. Resultados: las edades fluctuaron entre los 4,8 meses y los 18 años, con una media de 5,6 años. Los diagnósticos más frecuentes fueron RDPM (48%) y DI (30%). Se reportaron resultados anormales (variantes patogénicas, probablemente patogénicas, disomías uniparentales y regiones de homocigosidad superiores a 2,56%) en el 50,3% de los pacientes. Los resultados anormales se observaron en el 53,3% de los casos con diagnóstico de DI y el 47,9% de RDPM; mientras que en el resto de los casos con TBI sindrómica, SM y TEA tuvieron resultados anormales en el 52,4%, 52% y 20% respectivamente. Por otro lado, encontramos hasta un 6,2% de los padres eran consanguíneos no declarados. Conclusiones: la tasa de detección de las variantes en el número de copias (CNVs) encontrada en nuestro estudio fue superior a la reportada en estudios internacionales independientemente del diagnóstico clínico. Además, se pudo encontrar una mayor frecuencia de consanguinidad no declarada con relación a estudios anteriores.Colegio Médico del Perú2020-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://amp.cmp.org.pe/index.php/AMP/article/view/91510.35663/amp.2020.372.915ACTA MEDICA PERUANA; Vol 37 No 2 (2020): April - JuneACTA MEDICA PERUANA; Vol. 37 Núm. 2 (2020): Abril - Junio1728-59171018-8800reponame:Acta Médica Peruanainstname:Colegio Médico del Perúinstacron:CMPspahttps://amp.cmp.org.pe/index.php/AMP/article/view/915/438https://amp.cmp.org.pe/index.php/AMP/article/view/915/456Copyright (c) 2020 ACTA MEDICA PERUANAinfo:eu-repo/semantics/openAccessoai:ojs.pkp.sfu.ca:article/9152023-07-06T05:50:50Z |
score |
13.982926 |
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La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).