Study

Novel genes for Intellectual Disability identified using whole genome sequence and pathway analysis

Study ID Alternative Stable ID Type
EGAS00001001386 Other

Study Description

Intellectual Disability (ID) is one of the most common global disorders. However for ~30% of patients with ID no cause is identified, despite a clinical diagnostic odyssey that includes genome wide clinical microarray (CMA). We carefully selected 8 trios, each composed of a child with ID and brain structural defect, and both normal parents for whole genome sequencing (WGS). We conducted WGS on the trio and filtered out de novo single nucleotide variants (SNVs) and then used a pathway-based refinement to select candidates. We confirmed a de novo pathogenic SNV in ARID1B, and likely pathogenic SNVs in CACNB3, SPRY4, PHF6, SQSTM1 and UPF1 in 5 of the 8 children. All genes except ARID1B and PHF6 are previously unreported for ID. We analysed our WGS data using 4 independent algorthims for copy number and structural variation including using de novo whole genome assembly. We confirmed one likely contributory 165kb de novo CNV (missed by CMA). We conducted a validation study of over 2000 exomes for our novel candidate genes and also present a strategy to analyze the non-coding sequence ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001467
WGS of 8 trios - affected child and both normal parents
24

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