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Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
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논문 기본 정보

Type
Academic journal
Author
Journal
대한진단검사의학회 Annals of Laboratory Medicine Annals of Laboratory Medicine 제35권 제5호 KCI Accredited Journals
Published
2015.1
Pages
510 - 518 (9page)

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Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
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Background: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to assess the usefulness of CMA for the purpose of clinical diagnostic testing in the Korean population. Methods: We performed CMA and multiplex ligation-dependent probe amplification (MLPA) tests in 96 patients with normal karyotype and unexplained DD, MR, or ASD. The CMA was conducted with CytoScan 750K array (Affymetrix, USA) with an average resolution of 100 kb. Results: Pathogenic copy number variations (CNVs) were detected in 15 patients by CMA and in two patients by MLPA for four known microdeletion syndromes (Prader-Willi/Angelman syndrome, DiGeorge syndrome, Miller-Dieker syndrome and Williams syndrome) designated by National Health Insurance system in Korea. The diagnostic yield was 15.6% and 2.1%, respectively. Thirteen (13.5%) patients (excluding cases with pathogenic CNVs) had variants of uncertain clinical significance. There was one patient with a 17.1-megabase (Mb) region of homozygosity on chromosome 4q. Conclusions: Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD, MR, and ASD in Korea.
#Copy number variation #Chromosomal microarray #Developmental delay #Mental retardation #Autism spectrum disorders

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Adly N / 2014 / Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX / Hum Mutat 35 : 36 ~ 40 google schola American Psychiatric Association / 2013 / Diagnostic and statistical manual of mental disorders: DSM-5 / American Psychiatric Association google schola Battaglia A / 2013 / Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism google schola Bernardini L / 2009 / HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication / Clin Genet 76 : 117 ~ 119 google schola Bi W / 2013 / Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? / Genet Med 15 : google schola

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