Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A(KAT6A)

作     者：Simranpreet Kaur Nicole J.Van Bergen Bruria Ben-Zeev Emanuela Leonardi Tiong Y.Tan David Coman Benjamin Kamien Susan M.White Miya St John Dean Phelan Kristin Rigbye Sze Chern Lim Michelle C.Torres Melanie Marty Elena Savva Teresa Zhao Sean Massey Alessandra Murgia Wendy A.Gold John Christodoulou Simranpreet Kaur;Nicole J.Van Bergen;Bruria Ben-Zeev;Emanuela Leonardi;Tiong Y.Tan;David Coman;Benjamin Kamien;Susan M.White;Miya St John;Dean Phelan;Kristin Rigbye;Sze Chern Lim;Michelle C.Torres;Melanie Marty;Elena Sawa;Teresa Zhao;Sean Massey;Alessandra Murgia;Wendy A.Gold;John Christodoulou

作者机构：Brain and Mitochondrial Research GroupMurdoch Children's Research InstituteMelbourneAustralia Department of PaediatricsUniversity of MelbourneMelbourneAustralia Paediatric Neurology InstituteThe Edmond and Lily Safra Paediatric HospitalSheba Medical CenterTel HaShomerIsrael Sackler School of MedicineTel Aviv UniversityIsrael Molecular Genetics of NeurodevelopmentDepartment of Woman and Child HealthUniversity of PadovaItaly Fondazione Istituto di Ricerca Pediatrica(IRP)Citta della SperanzaPadovaItaly Victorian Clinical Genetics ServicesMurdoch Children's Research InstituteMelbourneAustralia Department of PaediatricsThe Wesley HospitalBrisbaneBrisbaneAustralia Queensland Children's HospitalBrisbaneAustralia School of MedicineUniversity of QueenslandBrisbaneAustralia Genetic Services of Western AustraliaWestern AustraliaAustralia Faculty of Health and Medical SciencesUniversity of Western AustraliaAustralia Speech and LanguageMurdoch Children's Research InstituteParkvilleVictoriaAustralia Department of Audiology and Speech PathologyUniversity of MelbourneParkvilleVictoriaAustralia The University of SydneySchool of Medical Sciences and Discipline of Child and Adolescent HealthFaculty of Medicine and HealthSydneyAustralia Molecular Neurobiology LabKids ResearchWestmead Children's HospitalWestmeadSydneyAustralia Kids Neuroscience CentreKids ResearchChildren's Hospital at WestmeadWestmeadSydneyAustralia 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2020年第47卷第10期

页      面：650-654页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：supported by the Victorian Government’s Operational Infrastructure Support Program Research Training Program scholarship(to S.K.) supported by Italian Ministry of Health Young Investigator(GR-2011-02347754 to E.L.) Fondazione Istituto di Ricerca PediatricaeCittàdella Speranza(18-04 to E.L.) supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology(CRE-SLANG)(1116976) 

主　　题：Rett al. landscape 

摘      要：Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).