Asset Details
Do you wish to reserve the book?
De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
Do you wish to request the book?
De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
2024
Overview
Autism spectrum disorder (ASD) is a developmental disorder with a prevalence of around 1% children worldwide and characterized by patient behaviour (communication, social interaction, and personal development). Data on the efficacy of diagnostic tests using copy number variations (CNVs) in candidate genes in ASD is currently around 10% but it is overrepresented by patients of Caucasian background. We report here that the diagnostic success of de novo candidate CNVs in Vietnamese ASD patients is around 6%. We recruited one hundred trios (both parents and a child) where the child was clinically diagnosed with ASD while the parents were not affected. We performed genetic screening to exclude RETT syndrome and Fragile X syndrome and performed genome-wide DNA microarray (aCGH) on all probands and their parents to analyse for de novo CNVs. We detected 1708 non-redundant CNVs in 100 patients and 118 (7%) of them were de novo . Using the filter for known CNVs from the Simons Foundation Autism Research Initiative (SFARI) database, we identified six CNVs (one gain and five loss CNVs) in six patients (3 males and 3 females). Notably, 3 of our patients had a deletion involving the SHANK3 gene–which is the highest compared to previous reports. This is the first report of candidate CNVs in ASD patients from Vietnam and provides the framework for building a CNV based test as the first tier screening for clinical management.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
Autism Spectrum Disorder - diagnosis
/ Autism Spectrum Disorder - genetics
/ Child
/ Children
/ Diseases
/ DNA
/ DNA Copy Number Variations - genetics
/ Female
/ Genomics
/ Humans
/ Male
/ Medicine and Health Sciences
/ Oligonucleotide Array Sequence Analysis
/ Pervasive developmental disorders
