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Germline mutations in the <jats:italic>FLCN<\/jats:italic> gene have been implicated in etiology of familial PSP (FPSP). Most of the currently identified <jats:italic>FLCN<\/jats:italic> mutations are small indels or point mutations that detected by Sanger sequencing. The aim of this study was to determine large <jats:italic>FLCN<\/jats:italic> deletions in PSP families that having no <jats:italic>FLCN<\/jats:italic> sequence\u2010mutations. Multiplex ligation\u2010dependent probe amplification (MLPA) assays and breakpoint analyses were used to detect and characterize the deletions. Three heterozygous <jats:italic>FLCN<\/jats:italic> intragenic deletions were identified in nine unrelated Chinese families including the exons 1\u20133 deletion in two families, the exons 9\u201314 deletion in five families and the exon 14 deletion in two families. All deletion breakpoints are located in Alu repeats. A 5.5\u2009Mb disease haplotype shared in the five families with exons 9\u201314 deletion may date the appearance of this deletion back to approximately 16 generations ago. Evidences for founder effects of the other two deletions were also observed. This report documents the first identification of founder mutations in <jats:italic>FLCN<\/jats:italic>, as well as expands mutation spectrum of the gene. Our findings strengthen the view that MLPA analysis for intragenic deletions\/duplications, as an important genetic testing complementary to DNA sequencing, should be used for clinical molecular diagnosis in FPSP. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36979","type":"journal-article","created":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T18:00:28Z","timestamp":1427220028000},"page":"1125-1133","source":"Crossref","is-referenced-by-count":16,"title":["<i>FLCN<\/i> intragenic deletions in Chinese familial primary spontaneous pneumothorax"],"prefix":"10.1002","volume":"167","author":[{"given":"Yibing","family":"Ding","sequence":"first","affiliation":[{"name":"Center for Translational Medicine Nanjing University Medical School Nanjing China"},{"name":"Jiangsu Key Laboratory for Molecular Medicine Nanjing University Medical School Nanjing 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