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Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 4

ABSTRACT: This study includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in children with ID/DD, ASD and MCA. We identified a broad range of pathogenic/likely pathogenic CNVs as well as variants of unclear significance and likely benign variants. Our results confirm the benefit of array-CGH in the current clinical genetic diagnostics through the identification of genetic cause of ID/DD in the high proportion of affected children.

ORGANISM(S): Homo sapiens

SUBMITTER: Marketa Wayhelova

PROVIDER: E-MTAB-6735 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities

Project description:This study includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in children with ID/DD, ASD and MCA. We identified a broad range of pathogenic/likely pathogenic CNVs as well as variants of unclear significance and likely benign variants. Our results confirm the benefit of array-CGH in the current clinical genetic diagnostics through the identification of genetic cause of ID/DD in the high proportion of affected children.

2019-08-31 | E-MTAB-8044 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 5

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Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities

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Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 3

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Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 2

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Array-CGH in a boy with an occurrence of neurodevelopmental disorders and epilepsy

Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.

2020-01-31 | E-MTAB-8147 | biostudies-arrayexpress

Comparative genome hybridisation by array to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome

Project description:We performed array-CGH and targeted massive parallel sequencing using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in a girl presenting an apparent microcephaly with mild dysmorphic facial features, delayed psychomotoric development and central hypotonia.

2019-04-15 | E-MTAB-7027 | biostudies-arrayexpress

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Project description:Retrospective investigation of genetic background of rapid progression of multiple myeloma into extramedullary relapse. Array-CGH showed chromothripsis in chromosome 18, hyperdiploidy, structural copy-number alterations. Utilization of novel NGS leukemia-related gene custom panel revealed patholological mutation in NRAS (c.181C>A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1.

2017-10-31 | E-MTAB-6033 | biostudies-arrayexpress

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder - implications of a copy number variation involving dpp10 (Perkin Elmer CGX)

Project description:Background Array-Comparative-Genomic-Hybridization (aCGH) is recommended as first-tier genetic test for children with autism spectrum disorder (ASD). However, result interpretation can be challenging as copy number variants (CNVs) in non-European ASD patients is not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. Methods DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. Results Ten pathogenic and one likely-pathogenic CNVs were found in nine patients, with an overall diagnostic yield of 3.5%. A 138kb duplication involving 3â exons of DPP10 (hg[19]chr2:116534689-116672358), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of unknown significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified amongst our ancestry-matched control with frequency of 6/653 (0.92%) as well as from literature and genomic databases. Conclusions DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.

2017-04-07 | E-MTAB-5672 | biostudies-arrayexpress

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