Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-11

AUTHORS

Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin, Joanna J Phillips, Quinten Waisfisz, Marjan M Weiss, Yvonne Hendriks, Kyra E Stuurman, Stanley F Nelson, Wayne W Grody, Hane Lee, Pui-Yan Kwok, Joseph T C Shieh

ABSTRACT

Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population exome data to identify intragenic missense-depleted regions (MDRs) genome-wide that may be important in disease. We then use missense depletion analyses to help prioritise undiagnosed disease exome variants. We demonstrate application of this strategy to identify a novel gene association for human brain malformation. We identified de novo missense variants that affect the GDP/GTP-binding site of ARF1 in three unrelated patients. Corresponding functional analysis suggests ARF1 GDP/GTP-activation is affected by the specific missense mutations associated with heterotopia. These findings expand the genetic pathway underpinning neurologic disease that classically includes FLNA. ARF1 along with ARFGEF2 add further evidence implicating ARF/GEFs in the brain. Using functional ontology, top MDR-containing genes were highly enriched for nucleotide-binding function, suggesting these may be candidates for human disease. Routine consideration of MDR in the interpretation of exome data for rare diseases may help identify strong genetic factors for many severe conditions, infertility/reduction in reproductive capability, and embryonic conditions contributing to preterm loss. More... »

PAGES

npjgenmed201636

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.36

DOI

http://dx.doi.org/10.1038/npjgenmed.2016.36

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020302304

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28868155


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