Abstract：
BACKGROUND:Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS:We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches. RESULTS:We verified de novo pathogenic single nucleotide variants (SNV) in ARID1B c.1595delG and PHF6 c.820C > T, potentially causative de novo two base indels in SQSTM1 c.115_116delinsTA and UPF1 c.1576_1577delinsA, and de novo SNVs in CACNB3 c.1289G > A, and SPRY4 c.508 T > A, of uncertain significance. We report results from a large secondary control study of 2081 exomes probing the pathogenicity of the above genes. We analyzed structural variation by four different algorithms including de novo genome assembly. We confirmed a likely contributory 165 kb de novo heterozygous 1q43 microdeletion missed by clinical microarray. The de novo assembly resulted in unmasking hidden genome instability that was missed by standard re-alignment based algorithms. We also interrogated regulatory sequence variation for known and hypothesized ID genes and present useful strategies for WGS data analyses for non-coding variation. CONCLUSION:This study provides an extensive analysis of WGS in the context of ID, providing genetic and structural insights into ID and yielding diagnoses.
journal_name
BMC Genomicsjournal_title
BMC genomicsauthors
Zahir FR,Mwenifumbo JC,Chun HE,Lim EL,Van Karnebeek CDM,Couse M,Mungall KL,Lee L,Makela N,Armstrong L,Boerkoel CF,Langlois SL,McGillivray BM,Jones SJM,Friedman JM,Marra MAdoi
10.1186/s12864-017-3671-0subject
Has Abstractpub_date
2017-05-24 00:00:00pages
403issue
1issn
1471-2164pii
10.1186/s12864-017-3671-0journal_volume
18pub_type
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