Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

doi:10.1371/journal.pgen.1005993

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Article

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

PLoS genetics - 1 May 2016

Isles Anthony R, Ingason Andrés, Lowther Chelsea, Walters James, Gawlick Micha, Stöber Gerald, Rees Elliott, Martin Joanna, Little Rosie B, Potter Harry, Georgieva Lyudmila, Pizzo Lucilla, Ozaki Norio, Aleksic Branko, Kushima Itaru, Ikeda Masashi, Iwata Nakao, Levinson Douglas F, Gejman Pablo V, Shi Jianxin, Sanders Alan R, Duan Jubao, Willis Joseph, Sisodiya Sanjay, Costain Gregory, Werge Thomas M, Degenhardt Franziska, Giegling Ina, Rujescu Dan, Hreidarsson Stefan J, Saemundsen Evald, Ahn Joo Wook, Ogilvie Caroline, Girirajan Santhosh D, Stefansson Hreinn, Stefansson Kari, O'Donovan Michael C, Owen Michael J, Bassett Anne, Kirov George

Abstract excerpt

Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity...

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PMID: 27153221
DOI: 10.1371/journal.pgen.1005993
PMCID: PMC4859484

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