Nat Genet.2010 January:42(1):30-35.doi:10.1038/ng.499 Exome sequencing identifies the cause of a Mendelian disorder Kar EXome sequencing identifies NMNAT1 mutations as borahdor2 Sal K Tabe Nic a cause of Leber congenital amaurosis Pei-Wen Ch Exome sequencing identifies MLL2 mutations as a Megan Day, cause of Kabuki syndrome Gabriel, Peik Sarah B Ng A! Exome sequencing identifies recurrent somatic Affiliations I Gildersleeve RAC1 mutations in melanoma Emily H turne Nature Gene Tohru Ohta Nd Michael Krauthammer Yong Kong Byung Hak Ha Perry Evans Antonella Bacchiocchi James Received 05 P McCusker Elaine Cheng Matthew J Davis Gerald Goh Murim Choi Stephan Ariyan Deepak Affiliations &Narayan Ken Dutton-Regester Ana Capatana Edna C Holman Marcus Bosenberg Mario Sznol 3)进 Harriet M Kluger Douglas E Brash David F Stern Miguel A Materin Roger S Lo Shrikant Mane 因上同 Nature Genetic Shuangge Ma Kenneth K Kidd Nicholas K Hayward Richard P Lifton Joseph Schlessinger Received 28 A Titus J Boggon Ruth Halaban Affiliations Contributions I Corresponding author Nature Genetics441006-1014(2012)|doi:10.1038/ng2359 Received 13 March 2012 I Accepted 28 June 2012 I Published online 29 July 20121) 研究人员选择了来自三个独立家系的四名米勒综合症（Miller syndrome； 常染色体隐性遗传单基因病）患者，进行外显子测序； 2) 通过与公共SNP数据库和8个来自HapMap的个体外显子数据相比较，4个 患者都同时含有2个先前未知的变异，这2个变异同时位于一个候选基因 DHODH上，该基因编码一个嘧啶从头合成途径中的关键酶蛋白； 3) 进一步在其它3个米勒综合症的家系中进行验证，发现患者的DHODH基 因上同样存在这个突变