Expansion and further delineation of the SETD5 phenotype leading to global developmental delay,variable dysmorphic features,and reduced penetrance期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay,variable dysmorphic features,and reduced penetrance

Authors:	Z Powis KD Farwell Hagman C Mroske K McWalter JS Cohen R Colombo A Serretti A Fatemi KL David J Reynolds L Immken H Nagakura CM Cunniff K Payne T Barbaro‐Dieber KW Gripp L Baker T Stamper KA Aleck ES Jordan JH Hersh J Burton IM Wentzensen MJ Guillen Sacoto R Willaert MT Cho I Petrik R Huether S Tang

Institution:	1. Division of Emerging Genetics Medicine, Ambry Genetics, Aliso Viejo, California;2. Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California;3. GeneDx, Gaithersburg, Maryland;4. Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland;5. Faculty of Medicine, Institute of Clinical Biochemistry, Catholic University and Policlinico Agostino Gemelli, Rome, Italy;6. Center for the Study of Rare Hereditary Disease, Niguarda Ca’ Granda Metropolitan Hospital, Milan, Italy;7. Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy;8. Department of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland;9. Department of Medicine, Division of Genetics, New York Methodist Hospital, Brooklyn, New York;10. Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana;11. Department of Genetics Specially for Children Genetics, Austin, Texas;12. Department of Pediatrics, Weill Cornell Medicine, New York, New York;13. Child Neurology, Riley Hospital for Children, Indianapolis, Indiana;14. Department of Genetics, Cook Children's Medical Center, Fort Worth, Texas;15. Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware;16. Department of Pediatrics, Section on Medical Genetics, Wake Forest Baptist Medical Center, Winston‐Salem, North Carolina;17. Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona;18. Weisskopf Center, University of Louisville Clinical Genetics Unit, Louisville, Kentucky;19. Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, Illinois

Abstract:	Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. Herein, we present additional patients with pathogenic SETD5 sequence alterations. The majority of patients in this cohort and previously reported have developmental delay, behavioral/psychiatric issues, and variable hand and skeletal abnormalities. We also present an apparently unaffected carrier mother of an affected individual and a carrier mother with normal intelligence and affected twin sons. We suggest that the phenotype of SETD5 is more complex and variable than previously presented. Therefore, many features and presentations need to be considered when evaluating a patient for SETD5 alterations through DES.

Keywords:	haploinsufficiency exome sequencing intellectual disability SETD5

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