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The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted <jats:italic>LRRC4C<\/jats:italic>, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted <jats:italic>DPP6<\/jats:italic>, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in <jats:italic>LRRC4C<\/jats:italic> had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11.2, 1q44, and 2q33.1 CN syndromes, suggesting <jats:italic>LRRC4C<\/jats:italic> deletion variants may be modifiers of neurodevelopmental disorders. In vitro, functional assessments modeling patient deletions in <jats:italic>LRRC4C<\/jats:italic> suggest a negative regulatory role of these exons found in the untranslated region of <jats:italic>LRRC4C<\/jats:italic>, which has a single, terminal coding exon. These data suggest that the proband's autism may be due to the inheritance of disruptions in both <jats:italic>DPP6<\/jats:italic> and <jats:italic>LRRC4C<\/jats:italic>, and may highlight the importance of the netrin G family and potassium channel interacting molecules in neurodevelopmental disorders. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38021","type":"journal-article","created":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T13:06:54Z","timestamp":1476882414000},"page":"395-406","source":"Crossref","is-referenced-by-count":51,"title":["Implication of <i>LRRC4C<\/i> and <i>DPP6<\/i> in neurodevelopmental disorders"],"prefix":"10.1002","volume":"173","author":[{"given":"Gilles","family":"Maussion","sequence":"first","affiliation":[{"name":"Department of Psychiatry McGill Group for Suicide Studies, and Douglas Mental Health University Institute Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiana","family":"Cruceanu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry McGill Group for Suicide Studies, and Douglas Mental Health University Institute Montreal Canada"},{"name":"Department of Human Genetics McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Signature Genomic Laboratories PerkinElmer, Inc. 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