Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome 英文参考文献.docVIP

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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome 英文参考文献.doc

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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome 英文参考文献

SmallDeletionsofSATB2CauseSomeoftheClinical Featuresofthe2q33.1MicrodeletionSyndrome JillA.Rosenfeld1,BlakeC.Ballif1,AnnLucas2,EdwardJ.Spence2,CynthiaPowell3,ArthurS.Aylsworth3, BethA.Torchia1,LisaG.Shaffer1* 1SignatureGenomicLaboratories,LLC,Spokane,Washington,UnitedStatesofAmerica,2CarolinasMedicalCenter,ClinicalGeneticsCenter,Charlotte,NorthCarolina, UnitedStatesofAmerica,3DepartmentsofPediatricsandGenetics,UniversityofNorthCarolina-ChapelHill,ChapelHill,NorthCarolina,UnitedStatesofAmerica Abstract Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficultiesandcleftorhighpalate.Thecommonlydeletedregioncontainsatleastsevengenes.Haploinsufficiencyofoneof thesegenes,SATB2,aDNA-bindingproteinthatregulatesgeneexpression,hasbeenimplicatedascausativeinthecleftor highpalateofindividualswith2q32q33microdeletionsyndrome.Inthisstudywedescribethreeindividualswithsmaller microdeletionsofthisregion,within2q33.1.Thedeletionsrangedinsizefrom173.1kbto185.2kbandspannedpartof SATB2.Reviewofclinicalrecordsshowedsimilarclinicalfeaturesamongtheseindividuals,includingseveredevelopmental delayandtoothabnormalities.Twooftheindividualshadbehavioralproblems.Onlyoneofthesubjectspresentedhere hadacleftpalate,suggestingreducedpenetranceforthisfeature.OurresultssuggestthatdeletionofSATB2isresponsible forseveraloftheclinicalfeaturesassociatedwith2q32q33microdeletionsyndrome. Citation: Rosenfeld JA, Ballif BC, Lucas A, Spence JE, Powell C, et al. (2009) Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 MicrodeletionSyndrome.PLoSONE4(8):e6568.doi:10.1371/journal.pone.0006568 Editor:AlexanderIdnurm,UniversityofMissouri-KansasCity,UnitedStatesofAmerica ReceivedFebruary26,2009;AcceptedApril23,2009;PublishedAugust10,2009 Copyright: ? 2009 Rosenfeld et al. This is an open-access article distri