De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

被引：0

作者：

Francesco Vetrini

Shane McKee

Jill A. Rosenfeld

Mohnish Suri

Andrea M. Lewis

Kimberly Margaret Nugent

Elizabeth Roeder

Rebecca O. Littlejohn

Sue Holder

Wenmiao Zhu

Joseph T. Alaimo

Brett Graham

Jill M. Harris

James B. Gibson

Matthew Pastore

Kim L. McBride

Makanko Komara

Lihadh Al-Gazali

Aisha Al Shamsi

Elizabeth A. Fanning

Klaas J. Wierenga

Daryl A. Scott

Ziva Ben-Neriah

Vardiella Meiner

Hanoch Cassuto

Orly Elpeleg

J. Lloyd Holder

Lindsay C. Burrage

Laurie H. Seaver

Lionel Van Maldergem

Sonal Mahida

Janet S. Soul

Margaret Marlatt

Ludmila Matyakhina

Julie Vogt

June-Anne Gold

Soo-Mi Park

Vinod Varghese

Anne K. Lampe

Ajith Kumar

Melissa Lees

Muriel Holder-Espinasse

Vivienne McConnell

Birgitta Bernhard

Ed Blair

Victoria Harrison

Donna M. Muzny

Richard A. Gibbs

Sarah H. Elsea

Jennifer E. Posey

机构：

[1] Baylor Genetics,Northern Ireland Regional Genetics Service

[2] Belfast City Hospital,Department of Molecular and Human Genetics

[3] Baylor College of Medicine,Nottingham Genetics Service

[4] Nottingham City Hospital,Department of Pediatrics

[5] Baylor College of Medicine,North West Thames Regional Genetics Service

[6] 759 Northwick Park Hospital,Human Genome Sequencing Center

[7] Baylor College of Medicine,Department of Pediatrics, College of Medicine & Health Sciences

[8] Dell Children’s Medical Group,Department of Pediatrics

[9] Division of Genetic and Genomic Medicine,Department of Pediatrics, Section of Genetics

[10] Nationwide Children’s Hospital; and Department of Pediatrics,Department of Human Genetics and Metabolic Diseases

[11] College of Medicine,Department of Pediatrics

[12] Ohio State University,Department of Pediatrics

[13] United Arab University,Department of Neurology

[14] Tawam Hospital,All

[15] University of Oklahoma Health Sciences Center,Wales Medical Genetics Service

[16] Hadassah-Hebrew University Medical Center,South East of Scotland Clinical Genetic Service

[17] Texas Children’s Hospital,North East Thames Regional Genetics Service

[18] University of Hawaii,South East Thames Regional Genetics Service

[19] Centre de Génétique Humaine,Oxford Regional Genetics Service

[20] Université de Franche-Comté,Wessex Clinical Genetics Service

[21] Boston Children’s Hospital,Monique and Jacques Roboh Department of Genetic Research

[22] Gene DX,Present address: Department of Medical and Molecular Genetics

[23] West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; and Women’s and Children’s Hospitals NHS Foundation Trust,Department of Molecular Physiology and Biophysics

[24] East Anglia Regional Genetics Service,undefined

[25] Addenbrooke’s Hospital,undefined

[26] University Hospital of Wales,undefined

[27] Western General Hospital,undefined

[28] Great Ormond Street Hospital,undefined

[29] Guy’s Hospital,undefined

[30] Oxford University Hospitals,undefined

[31] Princess Anne Hospital,undefined

[32] The DDD Study,undefined

[33] Wellcome Trust Sanger Institute,undefined

[34] The Hebrew University of Jerusalem,undefined

[35] Hadassah-Hebrew University Medical Center,undefined

[36] Indiana University School of Medicine,undefined

[37] Baylor College of Medicine,undefined

[38] Present address: Mayo Clinic Florida,undefined

[39] Department of Clinical Genomics,undefined

来源：

Genome Medicine | / 11卷

关键词：

22q13; Neurodevelopmental disorders; Smith–Magenis syndrome; Haploinsufficiency; Loss-of-function variants; Deletions;

D O I：

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摘要：

引用

共 363 条

[1]

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[2]

Simenson K(2014)A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region Am J Med Genet A 164A 806-809

[3]

Oiglane-Shlik E(2016)Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion Am J Med Genet A 170 792-794

[4]

Teek R(2016)Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability Eur J Med Genet 59 483-487

[5]

Kuuse K(2018)Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome Eur J Hum Genet 26 293-302

[6]

Ounap KA(2014)De novoand rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder Journal of Medical Genetics 51 737-747

[7]

Thummler S(2000)The nuclear factor SPBP contains different functional domains and stimulates the activity of various transcriptional activators J Biol Chem 275 402288-402300

[8]

Giuliano F(1995)Molecular characterization of a novel transcription factor that controls stromelysin expression Mol Cell Biol 15 3164-3170

[9]

Karmous-Benailly H(2013)A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules PLoS One 8 e24659-3430

[10]

Richelme C(2011)Pax6 represses androgen receptor-mediated transactivation by inhibiting recruitment of the coactivator SPBP PLoS One 6 3421-2257

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