Gene Network Analysis of Candidate Loci for Human Anorectal Malformations

Emily H.M. Wong, Chun Laam Ng, Vincent Chi Hang Lui, Man ting So, Stacey S. Cherny, Pak Chung Sham, Paul Kwong Hang Tam, Maria Mercè Garcia-Barceló

Research output: Contribution to journalArticlepeer-review


Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic morbidity. Our earlier genome-wide copy number variation (CNV) study had provided a wealth of candidate loci. To find out whether these candidate loci are related to important developmental pathways, we have performed an extensive literature search coupled with the currently available bioinformatics tools. This has allowed us to assign both genic and non-genic CNVs to interrelated pathways known to govern the development of the anorectal region. We have linked 11 candidate genes to the WNT signalling pathway and 17 genes to the cytoskeletal network. Interestingly, candidate genes with similar functions are disrupted by the same type of CNV. The gene network we discovered provides evidence that rare mutations in different interrelated genes may lead to similar phenotypes, accounting for genetic heterogeneity in ARMs. Classification of patients according to the affected pathway and lesion type should eventually improve the diagnosis and the identification of common genes/molecules as therapeutic targets.

Original languageEnglish
Article numbere69142
JournalPLoS ONE
Issue number8
StatePublished - 1 Aug 2013
Externally publishedYes


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