Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

Article ID	Journal	Published Year	Pages	File Type
8644820	Gene	2018	44 Pages	PDF

Abstract

We report here the patients with clearly pathogenic CNVs, discuss the potential causality of the possibly pathogenic CNVs and make genotype - phenotype correlations. One novel possibly pathogenic heterozygous deletion in 15q22.31 region was detected in a case with ID/DD. Additionally, whole APBA2 gene duplication in 15q13.1 was found in three generations of a family with epilepsy, ID and psychiatric abnormalities. The results from this study allow us to define the genetic diagnosis in a subset of Bulgarian patients and improve the genetic counseling of the affected families. To our knowledge, this is the first aCGH evaluation of a Bulgarian cohort of children with epilepsy and ID so far.

Keywords

N-methyl-d-aspartate GTCS WISC aCGH WES ACMG EES OMIM CNVs CK1 DGV NMDA CGA CdLS UCSC ISCN CMA UCS qPCR Autosomal recessive autism spectrum disorders Neurodevelopmental disorders Array comparative genomic hybridization MRI Epileptic Encephalopathies ADHD Epilepsy developmental delay Magnetic resonance imaging Whole exome sequencing computed tomography University of California Santa Cruz Dravet syndrome Cornelia de Lange Syndrome International System for Human Cytogenetic Nomenclature Wechsler Intelligence Scale for Children chromosomal microarray intellectual disability Congenital anomalies ASD Breakpoints quantitative real-time PCR Online Mendelian Inheritance in Man Database of genomic variants American College of Medical Genetics attention deficit and hyperactivity disorder Copy number variations GABA