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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

ABSTRACT: Schizophrenia likely results from poorly understood genetic and environmental factors. We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents. Two de novo mutations (R1117X and R536W) were identified in two families, one being found in three affected brothers, suggesting germline mosaicism. Zebrafish and rat hippocampal neuron assays revealed behavior and differentiation defects resulting from the R1117X mutant. As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders.

SUBMITTER: Gauthier J

PROVIDER: S-EPMC2867875 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Gauthier Julie J Champagne Nathalie N Lafrenière Ronald G RG Xiong Lan L Spiegelman Dan D Brustein Edna E Lapointe Mathieu M Peng Huashan H Côté Mélanie M Noreau Anne A Hamdan Fadi F FF Addington Anjené M AM Rapoport Judith L JL Delisi Lynn E LE Krebs Marie-Odile MO Joober Ridha R Fathalli Ferid F Mouaffak Fayçal F Haghighi Ali P AP Néri Christian C Dubé Marie-Pierre MP Samuels Mark E ME Marineau Claude C Stone Eric A EA Awadalla Philip P Barker Philip A PA Carbonetto Salvatore S Drapeau Pierre P Rouleau Guy A GA

Proceedings of the National Academy of Sciences of the United States of America 20100412 17

Schizophrenia likely results from poorly understood genetic and environmental factors. We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents. Two de novo mutations (R1117X and R536W) were identified in two families, one being found in three affected brothers, suggesting germline mosaicism. Zebrafish and rat hippocampal neuron assays revealed behavior and differentiation defects resulting from the R1117X mutant. As mutation ...[more]

PMID: 20385823

Dataset Information

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Publications

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

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