ࡱ> 685q` RbjbjqPqP2 ::  *oqqqqqq$h*    o o ^WRo0LG(8 h T )      Title:Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family Author(s): HYPERLINK "http://wos02.isiknowledge.com/CIW.cgi?SID=Y6lGeO7opkg2OKkf4e3&Func=OneClickSearch&field=AU&val=Wang+Y&curr_doc=4/2&Form=FullRecordPage&doc=4/2" \o "one-click search" Wang Y,  HYPERLINK "http://wos02.isiknowledge.com/CIW.cgi?SID=Y6lGeO7opkg2OKkf4e3&Func=OneClickSearch&field=AU&val=Zhao+H&curr_doc=4/2&Form=FullRecordPage&doc=4/2" \o "one-click search" Zhao H,  HYPERLINK "http://wos02.isiknowledge.com/CIW.cgi?SID=Y6lGeO7opkg2OKkf4e3&Func=OneClickSearch&field=AU&val=Zhang+X&curr_doc=4/2&Form=FullRecordPage&doc=4/2" \o "one-click search" Zhang X,  HYPERLINK "http://wos02.isiknowledge.com/CIW.cgi?SID=Y6lGeO7opkg2OKkf4e3&Func=OneClickSearch&field=AU&val=Feng+H&curr_doc=4/2&Form=FullRecordPage&doc=4/2" \o "one-click search" Feng H Source:JOURNAL OF DENTAL RESEARCH 82 (12): 1008-1012 DEC 2003 Document Type:Article Language:English  HYPERLINK "http://wos02.isiknowledge.com/CIW.cgi?SID=Y6lGeO7opkg2OKkf4e3&Func=PagedCitedRefList&UT=000186818500014&doc=4/2&rec_id=132222302" Cited References: 24 Times Cited: 0  HYPERLINK "http://wos02.isiknowledge.com/CIW.cgi?SID=Y6lGeO7opkg2OKkf4e3&Func=EasyRelated&UT=000186818500014&doc=4/2&rec_id=132222302"  INCLUDEPICTURE "http://images.isiknowledge.com/WoK3/Images/relrec.gif" \* MERGEFORMATINET  HYPERLINK ""  INCLUDEPICTURE "http://images.isiknowledge.com/WoK3/Images/info.gif" \* MERGEFORMATINET  Abstract:Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides 717-720 in exon 5 in all affected members. The mutation causes a frame shift after Thr44, the 7th amino acid of the homeo-domain, and introduces a premature stop codon in the gene sequence. This deletion is the first unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis. Author Keywords:oligodontia; Rieger syndrome; gene mutation; family KeyWords Plus:TRANSCRIPTION FACTOR GENE; EXPRESSION; FOXC1; SIGNALS; FKHL7; PAX6; 6P25 Addresses:Feng H (reprint author), Peking Univ, Dept Prosthodont, Sch Stomatol, 22 Zhong Guan Cun Nan Da Jie, Beijing, 100081 Peoples R China Peking Univ, Dept Prosthodont, Sch Stomatol, Beijing, 100081 Peoples R China Peking Univ, Dept Immunol, Sch Basic Med, Hlth Sci Ctr, Beijing, 100083 Peoples R China Peking Univ, Ctr Human Dis Genom, Beijing, 100083 Peoples R China Publisher:INT AMER ASSOC DENTAL RESEARCHI A D R/A A D R, 1619 DUKE ST, ALEXANDRIA, VA 22314-3406 USA Subject Category:DENTISTRY, ORAL SURGERY & MEDICINE IDS Number:747RL ISSN:0022-0345 fhrst& ' - . 0 1 _ ` f g i p q c d жККККiККiККiжКК,hfhf>*B*CJKHOJQJ^Jph2hfhf5>*B*CJKHOJQJ\^Jph6jhfhfB*CJKHOJQJU^JaJph3hfhf5B*CJKHOJQJ\^JaJph-hfhfB*CJKHOJQJ^JaJph/hfhf5B*CJKHOJQJ\^Jph)hi _=sgdf $1$a$gdf $1$9Da$gdfd u x y     y | } ~  ϳfOffOf-hfhfB*CJKHOJQJ^JaJph6jhfhfB*CJKHOJQJU^JaJph3hfhf5B*CJKHOJQJ\^JaJph-hfhfB*CJKHOJQJ^JaJph6jhfhfB*CJKHOJQJU^JaJph,hfhf>*B*CJKHOJQJ^Jph2hfhf5>*B*CJKHOJQJ\^Jph _i=Ns~Ȭ}}}}}}}}uhfh o(/hfhf5B*CJKHOJQJ\^Jph-hfhfB*CJKHOJQJ^JaJph6jhfhfB*CJKHOJQJU^JaJph6jhfhfB*CJKHOJQJU^JaJph6jhfhfB*CJKHOJQJU^JaJph0182P. 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