Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD Identification and Functional Analysis of Two New Mutations 英文参考文献.docVIP

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Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD Identification and Functional Analysis of Two New Mutations 英文参考文献.doc

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Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD Identification and Functional Analysis of Two New Mutations 英文参考文献

ScreeningofMAMLD1Mutationsin70Childrenwith 46,XYDSD:IdentificationandFunctionalAnalysisofTwo NewMutations NicolasKalfa1,2,MakiFukami3,PascalPhilibert1,FrancoiseAudran1,CatherinePienkowski4, JacquesWeill5,GraziellaPinto6,SylvieManouvrier7,MichelPolak6,TotsumoOgata3,CharlesSultan1,2,8* 1Serviced’Hormonologie,Ho?pitalLapeyronie,CHUdeMontpellieretUM1,Montpellier,France,2ServicedeChirurgieetUrologiePe′diatrique,Ho?pitalLapeyronie,CHUde MontpellieretUM1,Montpellier,France,3DepartmentofMolecularEndocrinology,NationalResearchInstituteforChildHealthandDevelopment,Tokyo,Japan,4Unite′ d’EndocrinologiePe′diatrique,Ho?pitaldesEnfants,CHUdeToulouse,Toulouse,France,5CliniquedePe′diatrie,Ho?pitalJeannedeFlandre,CHUdeLille,Lille,France,6Unite′ d’EndocrinologiePe′diatrique,Ho?pitalNeckerEnfantsMalades,APHP,Paris,France,7ServicedeGe′ne′tique Clinique,Ho?pitalJeannedeFlandre,CHUdeLille,Lille,France, 8Unite′ d’EndocrinologieetGyne′cologiePe′diatriques,ServicedePe′diatrie,Ho?pitalArnauddeVilleneuveetUM1,CHUdeMontpellier,Montpellier,France Abstract More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia,maybeimplicated.ThepresentstudyinvestigatedwhetherMAMLD1isimplicatedincasesofsevere46,XYDSD and whether routine sequencing of MAMLD1 should be performed in these patients. Seventy children with severe non- syndromic 46,XY DSD of unknown etiology were studied. One hundred and fifty healthy individuals were included as controls.DirectsequencingoftheMAMLD1,AR,SRD5A2andNR5A1geneswasperformed.Thetransactivationfunctionof the variant MAMLD1 proteins was quantified by the luciferase method. Two new mutations were identified: p.S143X (c.428C.A) in a patient with scrotal hypospadias with microph