Array CGH analysis of a cohort of Russian patients with intellectual disability |
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| Authors: | Anna A. Kashevarova Lyudmila P. Nazarenko Nikolay A. Skryabin Olga A. Salyukova Nataliya N. Chechetkina Ekaterina N. Tolmacheva Elena A. Sazhenova Pamela Magini Claudio Graziano Giovanni Romeo Vaidutis Kučinskas Igor N. Lebedev |
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| Affiliation: | 1. Institute of Medical Genetics, Tomsk, Russia;2. University of Bologna, Bologna, Italy;3. Vilnius University, Department of Human and Medical Genetics, Vilnius, Lithuania |
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| Abstract: | The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). Twenty-six pathogenic or likely pathogenic changes in copy number were detected in 22 patients (28%): 8 CNVs corresponded to known MMSs, and 17 were not associated with previously described syndromes. In this report, we describe our findings and comment on genes potentially associated with ID that are located within the CNV regions. |
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| Keywords: | ABLIM3, actin binding LIM protein family, member 3 ACAD10, acyl-CoA dehydrogenase family, member 10 ADHD, attention-deficit hyperactivity disorder AFAP1L1, actin filament associated protein 1-like 1 AGA, aspartylglucosaminidase ASTN1, astrotactin 1 CASP3, caspase 3, apoptosis-related cysteine peptidase CASP3, caspase 3, apoptosis-related cysteine peptidase CGH, comparative genomic hybridization CHERISH, grant of European Community's Seventh Framework Programme CNS, central nervous system CNTN6, contactin 6 CNTN6, contactin 6 CNV, copy number variation DDX10, DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 DECIPHER, database of chromosomal imbalance and phenotype in humans using ensembl resources EEG, electroencephalogram EU, European Union FJX1, four jointed box 1 (Drosophila) GLRA3, glycine receptor, alpha 3 HAND2, heart and neural crest derivatives expressed 2 HFE, hemochromatosis HFE, hemochromatosis ID, intellectual disability IFN, interferon IL17B, interleukin 17B ING2, inhibitor of growth family, member 2 ING2, inhibitor of growth family, member 2 IQ, intelligence quotient IRF1, interferon regulatory factor 1 IRF2, interferon regulatory factor 2 LDLRAD3, low density lipoprotein receptor class A domain containing 3 METTL4, methyltransferase like 4 METTL4, methyltransferase like 4 MMSs, microdeletion/microduplication syndromes MMP14, matrix metallopeptidase 14 (membrane-inserted) MRI, magnetic resonance imaging NDC80, NDC80 kinetochore complex component NDC80, NDC80 kinetochore complex component NEIL3, nei endonuclease VIII-like 3 (E. coli) NEIL3, nei endonuclease VIII-like 3 (E. coli) NO, nitrogen oxide OMIM, online mendelian inheritance in man PCR, polymerase chain reaction PL CNS, perinatal lesion of central nervous system PON1, paraoxonase 1 PON2, paraoxonase 2 PON3, paraoxonase 3 qPCR, quantitative PCR SBF, SET domain binding factor SCGN, secretagogin, EF-hand calcium binding protein SCRG1, stimulator of chondrogenesis 1 SLC1A2, solute carrier family 1 (glial high affinity glutamate transporter), member 2 SLC5A7, solute carrier family 5 (sodium/choline cotransporter), member 7 SLC7A7, solute carrier family 7 (amino acid transporter light chain, y + L system), member 7 SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1 SnoN, Ski-related novel protein N SUFU, suppressor of fused homolog (Drosophila) SWAP70, SWAP switching B-cell complex 70 kDa subunit SWAP70, SWAP switching B-cell complex 70 kDa subunit TGFβ, transforming growth factor beta TNR, tenascin R TRIM44, tripartite motif containing 44 WAGR, Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
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