{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T20:12:57Z","timestamp":1790021577999,"version":"4.0.1"},"reference-count":32,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> A gene for Larsen syndrome was recently described, and mutations were reported in five cases.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To test whether mutations in this gene, <jats:italic>FLNB<\/jats:italic>, could explain the disease in our independent collection of sporadic and dominant Larsen syndrome cases; and to test whether mutations occurred in a non-random pattern.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Missense mutations were found in each of five cases. Four of the five were new; one was reported in a sporadic case in the original Larsen syndrome study of five cases. All mutations from the two studies were compiled. Clustered mutations were observed within three filamin B protein domains: the calponin homology 2 domain, repeat 14, and repeat 15. This suggested that as few as five (of the total of 46) coding exons of <jats:italic>FLNB<\/jats:italic> could be screened to detect Larsen syndrome mutations. Four of these exons were screened in a sixth (sporadic) case and a previously reported G1691S substitution mutation detected.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> Mutations in <jats:italic>FLNB<\/jats:italic> may be responsible for all cases of Larsen syndrome. They appear to occur in specific functional domains of the filamin B protein. This should simplify diagnostic screening of the <jats:italic>FLNB<\/jats:italic> gene. Analyses in larger patient series are warranted to quantify this. The study confirmed the extreme variability in clinical presentation and the presence of unaffected carriers. A molecular screen would be valuable for diagnosis and genetic counselling.<\/jats:p>","DOI":"10.1136\/jmg.2005.038695","type":"journal-article","created":{"date-parts":[[2006,4,28]],"date-time":"2006-04-28T15:53:41Z","timestamp":1146239621000},"page":"e24-e24","source":"Crossref","is-referenced-by-count":36,"title":["Mutations responsible for Larsen syndrome cluster in the FLNB protein"],"prefix":"10.1136","volume":"43","author":[{"given":"D","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Herring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S S","family":"Swaney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T B","family":"McClendon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R H","family":"Browne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K E","family":"Rathjen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N M","family":"Cain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C A","family":"Wise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2006,4,28]]},"reference":[{"key":"2025101710301239000_43.5.e24.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(50)80268-8"},{"key":"2025101710301239000_43.5.e24.2","unstructured":"Herring JA. 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