{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:48:58Z","timestamp":1791276538359,"version":"4.1.0"},"reference-count":41,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2014,8,27]]},"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Inherited abnormalities of complement are found in \u223c60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the penetrance of the disease in three families with a <jats:italic>CFH<\/jats:italic> mutation (c.3643C&gt;G; p. Arg1215Gly) in whom a common lineage is probable. 25 individuals have been affected with aHUS with three peaks of incidence\u2014early childhood (n=6), early adulthood (n=11) and late adulthood (n=8). Eighteen individuals who have not developed aHUS carry the mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We estimated penetrance at the ages of 4, 27, 60 and 70 years as both a binary and a survival trait using MLINK and Mendel. We genotyped susceptibility factors in <jats:italic>CFH<\/jats:italic>, <jats:italic>CD46<\/jats:italic> and <jats:italic>CFHR1<\/jats:italic> in affected and unaffected carriers.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results and Conclusions<\/jats:title>\n                  <jats:p>We found that the estimates of penetrance at the age of 4\u2005years ranged from &lt;0.01 to 0.10, at the age of 27\u2005years from 0.16 to 0.29, at the age of 60 years from 0.39 to 0.51 and at the age of 70 years from 0.44 to 0.64. We found that the <jats:italic>CFH<\/jats:italic> haplotype on the allele not carrying the <jats:italic>CFH<\/jats:italic> mutation had a significant effect on disease penetrance. In this family, we did not find that the <jats:italic>CD46<\/jats:italic> haplotypes had a significant effect on penetrance.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2014-102498","type":"journal-article","created":{"date-parts":[[2014,9,27]],"date-time":"2014-09-27T03:14:25Z","timestamp":1411787665000},"page":"756-764","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":29,"title":["Factors determining penetrance in familial atypical haemolytic uraemic syndrome"],"prefix":"10.1136","volume":"51","author":[{"given":"Francis H","family":"Sansbury","sequence":"first","affiliation":[{"name":"Peninsula Clinical Genetics Service, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK"},{"name":"University of Exeter Medical School, University of Exeter, Exeter, UK"},{"name":"Bristol Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, Clinical Genetics, St. Michael's Hospital, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather J","family":"Cordell","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coralie","family":"Bingham","sequence":"additional","affiliation":[{"name":"University of Exeter Medical School, University of Exeter, Exeter, UK"},{"name":"Department of Renal Medicine, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Wonford), Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilly","family":"Bromilow","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Heavitree), Exeter, 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