Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

Gene
Valentina PeychevaRadka Kaneva

Abstract

High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders. In this study, we examined 92 patients of Bulgarian origin at age between 1 and 22 years with ID, generalized epilepsy, autistic signs and congenital anomalies. CMA was carried out using SurePrint G3 Human CGH Microarray Kit, 4 × 180 K and SurePrint G3 Unrestricted CGH ISCA v2, 4 × 180 K oligo platforms. Referral indications for selection of the patients were the presence of generalized refractory seizures disorders and co-morbid ID. Clearly pathogenic copy number variations (CNVs) were detected in eight patients (8.7%) from our cohort. Additionally, possibly pathogenic rearrangements of unclear clinical significance were detected in six individuals (6.5%), which make for an overall diagnostic yield of 15....Continue Reading

Citations

Aug 2, 2020·Journal of Neurochemistry·Abinayah JohnKate Baker
Feb 6, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Qingxian ChangYu Lan
Jan 24, 2021·Clinical Neurology and Neurosurgery·Burcu AlbuzFatma Silan

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