Article
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
American journal of medical genetics. Part A - 1 Feb 2017
Maussion Gilles, Cruceanu Cristiana, Rosenfeld Jill A, Bell Scott C, Jollant Fabrice, Szatkiewicz Jin, Collins Ryan L, Hanscom Carrie, Kolobova Ilaria, de Champfleur Nicolas Menjot, Blumenthal Ian, Chiang Colby, Ota Vanessa, Hultman Christina, O'Dushlaine Colm, McCarroll Steve, Alda Martin, Jacquemont Sebastien, Ordulu Zehra, Marshall Christian R, Carter Melissa T, Shaffer Lisa G, Sklar Pamela, Girirajan Santhosh, Morton Cynthia C, Gusella James F, Turecki Gustavo, Stavropoulos Dimitri J, Sullivan Patrick F, Scherer Stephen W, Talkowski Michael E, Ernst Carl
Abstract excerpt
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived...
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