{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:09:55Z","timestamp":1764781795946,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,6]]},"abstract":"<jats:p>The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paternal age. No significant increase in maternal or paternal age was found in cases having OI either of a dominant type with an affected parent or of a type (Sillence type III) usually regarded as recessive. We conclude that, as in certain other dominant conditions, the risk of mutant OI increases with paternal age. However, the rate of increase of risk with paternal age appears to be considerably lower than, for example, in achondroplasia. The overall risk of fresh dominant mutation in older fathers may therefore be lower than has previously been suggested.<\/jats:p>","DOI":"10.1136\/jmg.23.3.227","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"227-230","source":"Crossref","is-referenced-by-count":32,"title":["Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta."],"prefix":"10.1136","volume":"23","author":[{"given":"A D","family":"Carothers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S J","family":"McAllion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C R","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ajmg.1320050213","article-title":"Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: support for genetic heterogeneity","volume":"5","author":"Levin, L.S.; Brady, J.M.; Melnick, M.","year":"1980","unstructured":"Levin LS, Brady JM, Melnick M. Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: support for genetic heterogeneity. Am J Med Genet 1980;5:189-99.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1302\/0301-620X.65B1.6822598","article-title":"Osteogenesis imperfecta with dominant inheritance and normal sclerae","volume":"65","author":"Paterson, C.R.; McAllion, S.; Miller, R.","year":"1983","unstructured":"Paterson CR, McAllion S, Miller R. Osteogenesis imperfecta with dominant inheritance and normal sclerae. J Bone Joint Surg (Br) 1983;65:35-9.","journal-title":"J Bone Joint Surg (Br)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmg.20.3.203","article-title":"Hcterogcneity of osteogenesis imperfecta type","volume":"20","author":"Paterson, C.R.; McAllion, S.; Miller, R.","year":"1983","unstructured":"Paterson CR, McAllion S, Miller R. Hcterogcneity of osteogenesis imperfecta type I. J Med Genet 1983;20:203-5.","journal-title":"I. J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/978-1-4615-9068-2_4","article-title":"Spontaneous mutation in man","volume-title":"Advances in human genetics. Vol 5","author":"Vogel, F.; Rathenberg, R.","year":"1975","unstructured":"Vogel F, Rathenberg R. Spontaneous mutation in man. In: Harris H, Hirschhorn K, eds. Advances in human genetics. Vol 5. 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A study of clinical featurcs and heredity bascd on 55 Danish families comprising 18t) affected members. Opera ex Domo Biol Hered Hum Univ Copenhagen 1949: 20","author":"Seedorff, K.S.","key":"ref_8","unstructured":"Seedorff KS. Osteogcncsis impcrfccta. A study of clinical featurcs and heredity bascd on 55 Danish families comprising 18t) affected members. Opera ex Domo Biol Hered Hum Univ Copenhagen 1949:20."},{"key":"ref_9","first-page":"1939","article-title":"Statistical Reviews of England and Wales. London: HMSO, 1939-1973. Officc of Population Censuses and Surveys. Birth Statistics, England and Wales, Series FMI. Lonidon: HMSO. 1974-1982","author":"Registrar-General","unstructured":"Registrar-General. Statistical Reviews of England and Wales. London: HMSO, 1939-1973. Officc of Population Censuses and Surveys. Birth Statistics, England and Wales, Series FMI. Lonidon: HMSO. 1974-1982. Rcgistrar General Scotland. Annual Reports. Edinburgh: HMSO, 1939-1982.","journal-title":"Rcgistrar General Scotland. Annual Reports"},{"key":"ref_10","first-page":"55","article-title":"Lamson SH, Cross PK, Hook EB. Regal RR. On the inadequacy of quinqucnnial data for the paternal age effect on Down's syndrome rates","year":"1980","unstructured":"Lamson SH, Cross PK, Hook EB. Regal RR. On the inadequacy of quinqucnnial data for the paternal age effect on Down's syndrome rates. Hum Genet 1980):55:49-51.","journal-title":"Hum Genet"},{"key":"ref_11","first-page":"1","article-title":"Der Einfluss des Zeugungsalters auf die Mutationen zu Hamophilie A","volume":"3","author":"Herrman, J.","year":"1966","unstructured":"Herrman J. Der Einfluss des Zeugungsalters auf die Mutationen zu Hamophilie A. Humangenetik 1966;3:1-16.","journal-title":"Humangenetik"},{"key":"ref_12","first-page":"745","article-title":"Genetic disease in the offspring of older fathcrs","volume":"57","author":"Friedman, J.M.","year":"1981","unstructured":"Friedman JM. Genetic disease in the offspring of older fathcrs. Obstet Gynecol 1981;57:745-9.","journal-title":"Obstet Gynecol"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1111\/j.1469-1809.1970.tb01648.x","article-title":"Achondroplasia-a genetic and statistical survcy","volume":"33","author":"Murdock, J.L.; McKusick, Walker B.A.Hall J.G.Abbcy H.Smith K.K.; V.A.","year":"1970","unstructured":"Murdock JL, Walker BA. Hall JG. Abbcy H. Smith KK. McKusick VA. Achondroplasia-a genetic and statistical survcy. 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