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Journal article
Missense variant contribution to USP9X-female syndrome
Npj genomic medicine, v 5(1), pp 53-53
09 Dec 2020
PMID: 33298948
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X -female syndrome. Here we provide evidence of the contribution of
USP9X missense and small in-frame deletion variants in USP9X -female syndrome also. We scrutinise the pathogenicity of eleven such variants, ten of which were novel. Combined application of variant prediction algorithms, protein structure modelling, and assessment under clinically relevant guidelines universally support their pathogenicity. The core phenotype of this cohort overlapped with previous descriptions of USP9X -female syndrome, but exposed heightened variability. Aggregate phenotypic information of 35 currently known females with predicted pathogenic variation in USP9X reaffirms the clinically recognisable
USP9X -female syndrome, and highlights major differences when compared to USP9X -male associated neurodevelopmental disorders.
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Details
- Title
- Missense variant contribution to USP9X-female syndrome
- Creators
- Lachlan A. Jolly - The University of AdelaideEuan Parnell - Northwestern UniversityAlison E. Gardner - The University of AdelaideMark A. Corbett - The University of AdelaideLuis A. Pérez-Jurado - The University of AdelaideMarie Shaw - The University of AdelaideGaetan Lesca - Université de LyonCatherine Keegan - University of MichiganMichael C. Schneider - St. Christopher's Hospital for ChildrenEmily Griffin - Columbia UniversityFelicitas Maier - Ludwig Maximilian University of MunichCourtney Kiss - Kingston Health Sciences CentreAndrea Guerin - Kingston General HospitalKathleen Crosby - Children’s National Health SystemKenneth Rosenbaum - Children’s National Health SystemPranoot Tanpaiboon - Children’s National Health SystemSandra Whalen - Hôpital Armand TrousseauBoris Keren - Pitié-Salpêtrière HospitalJulie McCarrier - Medical College of WisconsinDonald Basel - Medical College of WisconsinSimon Sadedin - Victorian Clinical Genetics ServicesSusan M. White - Victorian Clinical Genetics ServicesMartin B. Delatycki - Victorian Clinical Genetics ServicesTjitske Kleefstra - Radboud University Medical CenterSébastien Küry - Centre Hospitalier Universitaire de NantesAlfredo Brusco - University of TurinElena Sukarova-Angelovska - Ss. Cyril and Methodius University in SkopjeSlavica Trajkova - University of TurinSehoun Yoon - Northwestern MedicineStephen A. Wood - Griffith UniversityMichael Piper - The University of QueenslandPeter Penzes - Northwestern UniversityJozef Gecz - The University of Adelaide
- Publication Details
- Npj genomic medicine, v 5(1), pp 53-53
- Publisher
- Nature Publishing Group UK
- Grant note
- 628952; 1041920 / ;
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000597263100001
- Scopus ID
- 2-s2.0-85097438993
- Other Identifier
- 991019169109004721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity