{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:32:32Z","timestamp":1762641152120,"version":"build-2065373602"},"reference-count":30,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> The genetic basis of variation in human cognitive abilities is poorly understood. <jats:italic>RIMS1<\/jats:italic> encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> An established paradigm examining the structural and functional effects of mutations in genes expressed in the eye and the brain was used to study a kindred with an inherited retinal dystrophy due to <jats:italic>RIMS1<\/jats:italic> mutation.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Materials and methods:<\/jats:bold> Neuropsychological tests and high-resolution MRI brain scanning were undertaken in the kindred. In a population cohort, neuropsychological scores were associated with common variation in <jats:italic>RIMS1<\/jats:italic>. Additionally, <jats:italic>RIMS1<\/jats:italic> was sequenced in top-scoring individuals. Evolution of <jats:italic>RIMS1<\/jats:italic> was assessed, and its expression in developing human brain was studied.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Affected individuals showed significantly enhanced cognitive abilities across a range of domains. Analysis suggests that factors other than <jats:italic>RIMS1<\/jats:italic> mutation were unlikely to explain enhanced cognition. No association with common variation and verbal IQ was found in the population cohort, and no other mutations in <jats:italic>RIMS1<\/jats:italic> were detected in the highest scoring individuals from this cohort. RIMS1 protein is expressed in developing human brain, but <jats:italic>RIMS1<\/jats:italic> does not seem to have been subjected to accelerated evolution in man.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> A possible role for <jats:italic>RIMS1<\/jats:italic> in the enhancement of cognitive function at least in this kindred is suggested. Although further work is clearly required to explore these findings before a role for <jats:italic>RIMS1<\/jats:italic> in human cognition can be formally accepted, the findings suggest that genetic mutation may enhance human cognition in some cases.<\/jats:p>","DOI":"10.1136\/jmg.2006.047407","type":"journal-article","created":{"date-parts":[[2007,1,19]],"date-time":"2007-01-19T20:13:54Z","timestamp":1169237634000},"page":"373-380","source":"Crossref","is-referenced-by-count":23,"title":["Genetic enhancement of cognition in a kindred with cone\u2013rod dystrophy due to <i>RIMS1<\/i> mutation"],"prefix":"10.1136","volume":"44","author":[{"given":"Sanjay M","family":"Sisodiya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela J","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Need","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael E","family":"Weale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan E","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha L","family":"Free","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Walley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Curtis","family":"Gumbs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dianne","family":"Gerrelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piers","family":"Ruddle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence J","family":"Whalley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M","family":"Starr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David M","family":"Hunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David B","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian J","family":"Deary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony T","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2007,1,19]]},"reference":[{"key":"2025100511473920000_44.6.373.1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.166.2.835"},{"key":"2025100511473920000_44.6.373.2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201588"},{"key":"2025100511473920000_44.6.373.3","unstructured":"National Research Council. 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