Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.

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作者： Laura S,Farach ^[1] ; Hope,Northrup ^[2] ; Mark,Nellist ^[3] ; Leontine,van Unen ^[3] ; Paul,Hillman ^[2] ; Katarzyna,Klonowska ^[4] ; Rosemary,Ekong ^[5] ; Peter B,Crino ^[6] ; Kit Sing,Au ^[2]

作者单位： Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA. Electronic address: laura.s.farach@uth.tmc.edu. ^[1] Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA. ^[2] Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands. ^[3] Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ^[4] Research Department of Genetics, Evolution and Environment, Darwin Building, University College London, London, United Kingdom. ^[5] Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA. ^[6]

关键词 Genetic counseling Genotype phenotype association Non-invasive prenatal screening TSC2 Tuberous sclerosis complex

主题词肿瘤抑制蛋白质类(Tumor Suppressor Proteins);突变(Mutation);毒力(Virulence);表型(Phenotype);RNA, 信使(RNA, Messenger)

DOI 10.1016/j.gene.2023.147566

PMID 37311496

发布时间 2023-07-18

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