Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8644820 | Gene | 2018 | 44 Pages |
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-aspartateGTCSWISCaCGHWESACMGEESOMIMCNVsCK1DGVNMDACGACdLSUCSCISCNCMAUCSqPCRAutosomal recessiveautism spectrum disordersNeurodevelopmental disordersArray comparative genomic hybridizationMRIEpileptic EncephalopathiesADHDEpilepsydevelopmental delayMagnetic resonance imagingWhole exome sequencingcomputed tomographyUniversity of California Santa CruzDravet syndromeCornelia de Lange SyndromeInternational System for Human Cytogenetic NomenclatureWechsler Intelligence Scale for Childrenchromosomal microarrayintellectual disabilityCongenital anomaliesASDBreakpointsquantitative real-time PCROnline Mendelian Inheritance in ManDatabase of genomic variantsAmerican College of Medical Geneticsattention deficit and hyperactivity disorderCopy number variationsGABA
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Authors
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov,