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DC Field | Value | Language |
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dc.contributor.author | Sato, MS | - |
dc.contributor.author | Kyriakopoulos, M | - |
dc.contributor.author | James, A | - |
dc.contributor.author | Marwedel, S | - |
dc.contributor.author | Borsay, C | - |
dc.contributor.author | Gutierrez, AA | - |
dc.contributor.author | Blakemore, AI | - |
dc.contributor.author | Need, AC | - |
dc.date.accessioned | 2023-10-01T15:13:39Z | - |
dc.date.available | 2023-10-01T15:13:39Z | - |
dc.date.issued | 2020-06-01 | - |
dc.identifier.citation | Sato, M.S. et al. (2020) 'Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis', Psychiatric Genetics, 30 (3), pp. 73 - 82. doi: 10.1097/YPG.0000000000000253. | en_US |
dc.identifier.issn | 0955-8829 | - |
dc.identifier.uri | https://bura.brunel.ac.uk/handle/2438/27281 | - |
dc.description.abstract | Objective: To identify genes underlying childhood onset psychosis. Methods: Patients with onset of psychosis at age 13 or younger were identified from clinics across England, and they and their parents were exome sequenced and analysed for possible highly penetrant genetic contributors. Results: We report two male childhood onset psychosis patients of different ancestries carrying hemizygous very rare possibly damaging missense variants (p.Arg846His and p.Pro145Ser) in the L1CAM gene. L1CAM is an X-linked Mendelian disease gene in which both missense and loss of function variants are associated with syndromic forms of intellectual disability and developmental disorder. Conclusions: This is the first study reporting a possible extension of the phenotype of L1CAM variant carriers to childhood onset psychosis. The family history and presence of other significant rare genetic variants in the patients suggest that there may be genetic interactions modulating the presentation. | en_US |
dc.description.sponsorship | This work was supported by the Marie Curie Integration Grant (grant number CIG 631787); RC2 NS070344/NS/NINDS NIH HHS/United States; U54 NS078059/NS/NINDS NIH HHS/United States; P01 HD080642/HD/NICHD NIH HHS/United States; U01 NS077303/NS/NINDS NIH HHS/United States; U01 NS053998/NS/NINDS NIH HHS/United States; R01 MH097971/MH/NIMH NIH HHS/United States U01 HG007672/HG/NHGRI NIH HHS/United States. | en_US |
dc.format.extent | 73 - 82 | - |
dc.format.medium | Print-Electronic | - |
dc.language | English | - |
dc.language.iso | en_US | en_US |
dc.publisher | Lippincott, Williams & Wilkins (Wolters Kluwer Health) | en_US |
dc.rights | This is a non-final version of an article published in final form in Sato, M. S.; Kyriakopoulos, M.; James, A.; Marwedel, S.; Borsay, C.; Gutierrez, A. A.; Blakemore, A. I.; Need, A. C (2020) 'Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis', Psychiatric Genetics, 30 (3), pp. 73 - 82. doi: 10.1097/YPG.0000000000000253. | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/ | - |
dc.subject | exome | en_US |
dc.subject | COS | en_US |
dc.subject | childhood-onset | en_US |
dc.subject | schizophrenia | en_US |
dc.title | Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis | en_US |
dc.type | Article | en_US |
dc.identifier.doi | https://doi.org/10.1097/YPG.0000000000000253 | - |
dc.relation.isPartOf | Psychiatric Genetics | - |
pubs.issue | 3 | - |
pubs.publication-status | Published | - |
pubs.volume | 30 | - |
dc.identifier.eissn | 1473-5873 | - |
dc.rights.holder | Wolters Kluwer Health, Inc. | - |
Appears in Collections: | Dept of Life Sciences Research Papers |
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