{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T17:17:16Z","timestamp":1794071836461,"version":"4.8.0"},"reference-count":19,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> B\u00f6rjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in <jats:italic>PHF6<\/jats:italic>, a novel zinc finger gene of unknown function.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To present the results of mutation screening in individuals referred for <jats:italic>PHF6<\/jats:italic> testing and discuss the value of prior X-inactivation testing in the mothers of these individuals.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> 25 unrelated individuals were screened (24 male, one female). Five <jats:italic>PHF6<\/jats:italic> mutations were detected, two of which (c.940A\u2192G and c.27_28insA) were novel. One of these new mutations, c.27_28insA, was identified in a female BFLS patient. This was shown to be a de novo mutation arising on the paternal chromosome. This is the first report of a clinically diagnosed BFLS female with a confirmed <jats:italic>PHF6<\/jats:italic> mutation. In addition, the X-inactivation status of the mothers of 19 males with suggested clinical diagnosis of BFLS was determined. Skewed (\u2a7e70%) X-inactivation was present in five mothers, three of whom had sons in whom a <jats:italic>PHF6<\/jats:italic> mutation was detected. The mutation positive female also showed skewing.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> The results indicate that the success of <jats:italic>PHF6<\/jats:italic> screening in males suspected of having BFLS is markedly increased if there is a positive family history and\/or skewed X-inactivation is found in the mother.<\/jats:p>","DOI":"10.1136\/jmg.2005.033084","type":"journal-article","created":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T20:46:10Z","timestamp":1120250770000},"page":"238-243","source":"Crossref","is-referenced-by-count":48,"title":["Mutation screening in B\u00f6rjeson-Forssman-Lehmann syndrome: identification of a novel de novo <i>PHF6<\/i> mutation in a female patient"],"prefix":"10.1136","volume":"43","author":[{"given":"J","family":"Crawford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K M","family":"Lower","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R C M","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S A","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"G\u00e9cz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,7,1]]},"reference":[{"key":"2025100511250186000_43.3.238.1","first-page":"13","volume":"171","year":"1962","journal-title":"Acta Med Scand"},{"key":"2025100511250186000_43.3.238.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1040"},{"key":"2025100511250186000_43.3.238.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201228"},{"key":"2025100511250186000_43.3.238.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00215.x"},{"key":"2025100511250186000_43.3.238.5","doi-asserted-by":"publisher","DOI":"10.1086\/341123"},{"key":"2025100511250186000_43.3.238.6","first-page":"1229","volume":"51","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025100511250186000_43.3.238.7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<27::AID-AJMG3>3.0.CO;2-O"},{"key":"2025100511250186000_43.3.238.8","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.10.2794"},{"key":"2025100511250186000_43.3.238.9","unstructured":"Thouin MM, Giron JM, Hoffman EP. Molecular analysis of genetic identity. In: Dracopoli NC, Haines JL, Korf BR, et al, editors. Current protocols in human genetics, vol 2. New York: John Wiley and Sons, 2002:9.7.1-6."},{"key":"2025100511250186000_43.3.238.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e50"},{"key":"2025100511250186000_43.3.238.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.020370"},{"key":"2025100511250186000_43.3.238.12","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1327"},{"key":"2025100511250186000_43.3.238.13","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278187"},{"key":"2025100511250186000_43.3.238.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.07.041"},{"key":"2025100511250186000_43.3.238.15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh142"},{"key":"2025100511250186000_43.3.238.16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027730"},{"key":"2025100511250186000_43.3.238.17","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF01873532","volume":"29","year":"1984","journal-title":"Jinrui Idengaku Zasshi"},{"key":"2025100511250186000_43.3.238.18","first-page":"148","volume":"99","year":"1997","journal-title":"Clin Neurol"},{"key":"2025100511250186000_43.3.238.19","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<258::AID-AJMG12>3.0.CO;2-Q"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2005.033084","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:25:08Z","timestamp":1759688708000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2005.033084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,1]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2006,3,8]]},"published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1136\/jmg.2005.033084"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2005.033084","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,1]]}}}