Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

被引：0

作者：

Jeroen K J Van Houdt

Beata Anna Nowakowska

Sérgio B Sousa

Barbera D C van Schaik

Eve Seuntjens

Nelson Avonce

Alejandro Sifrim

Omar A Abdul-Rahman

Marie-José H van den Boogaard

Armand Bottani

Marco Castori

Valérie Cormier-Daire

Matthew A Deardorff

Isabel Filges

Alan Fryer

Jean-Pierre Fryns

Simone Gana

Livia Garavelli

Gabriele Gillessen-Kaesbach

Bryan D Hall

Denise Horn

Danny Huylebroeck

Jakub Klapecki

Malgorzata Krajewska-Walasek

Alma Kuechler

Matthew A Lines

Saskia Maas

Kay D MacDermot

Shane McKee

Alex Magee

Stella A de Man

Yves Moreau

Fanny Morice-Picard

Ewa Obersztyn

Jacek Pilch

Elizabeth Rosser

Nora Shannon

Irene Stolte-Dijkstra

Patrick Van Dijck

Catheline Vilain

Annick Vogels

Emma Wakeling

Dagmar Wieczorek

Louise Wilson

Orsetta Zuffardi

Antoine H C van Kampen

Koenraad Devriendt

Raoul Hennekam

Joris Robert Vermeesch

机构：

[1] Center for Human Genetics,Department of Medical Genetics

[2] Catholic University Leuven,Department of Clinical Epidemiology

[3] University Hospital Gasthuisberg,Department of Molecular and Developmental Genetics

[4] Institute of Mother and Child,Department of Molecular Microbiology

[5] Clinical and Molecular Genetics Unit,Department of Electrical Engineering (ESAT)

[6] Institute of Child Health,Division of Medical Genetics, Department of Pediatrics

[7] Serviço de Genética Médica,Department of Medical Genetics

[8] Hospital Pediátrico de Coimbra,Department of Genetic and Laboratory Medicine

[9] Bioinformatics Laboratory,Department of Molecular Medicine

[10] Biostatistics and Bioinformatics,Département de Génétique

[11] Academic Medical Center,Division of Genetics

[12] Laboratory of Molecular Biology (Celgen),Division of Medical Genetics, Department of Biomedicine

[13] Center for Human Genetics,Department of Clinical Genetics

[14] Catholic University Leuven,Department of Obstetric and Pediatric

[15] Flanders Institute for Biotechnology,Department of Pediatrics

[16] Flanders Institute for Biotechnology,Department of Medical Genetics

[17] Laboratory of Molecular Cell Biology,Department of Genetics

[18] Catholic University Leuven,Department of Pediatrics

[19] Catholic University Leuven,Department of Pediatrics

[20] University of Mississippi Medical Center,Department of Clinical Genetics

[21] University Medical Center Utrecht,Department of Child Neurology

[22] Geneva University Hospitals,Department of Clinical Genetics

[23] Medical Genetics,Department of Genetics

[24] Sapienza University,Department of Clinical Genetics

[25] San Camillo-Forlanini Hospital,undefined

[26] Université Paris Descartes,undefined

[27] Institut National de la Santé et de la Recherche Médicale (INSERM) U781,undefined

[28] Hôpital Necker–Enfants Malades,undefined

[29] Children's Hospital of Philadelphia,undefined

[30] University Children's Hospital,undefined

[31] Alder Hey Children's Hospital,undefined

[32] Liverpool,undefined

[33] and Liverpool Women's Hospital,undefined

[34] Medical Genetics,undefined

[35] University of Pavia,undefined

[36] Clinical Genetics Unit,undefined

[37] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS),undefined

[38] Santa Maria Nuova Hospital,undefined

[39] Institute of Human Genetics,undefined

[40] Universitaet zu Luebeck,undefined

[41] University of Kentucky,undefined

[42] Institut für Medizinische Genetik,undefined

[43] Humboldt-Universität,undefined

[44] The Children's Memorial Health Institute,undefined

[45] Institut für Humangenetik,undefined

[46] Universitätsklinikum,undefined

[47] Children's Hospital of Eastern Ontario,undefined

[48] Academic Medical Center,undefined

[49] University of Amsterdam,undefined

[50] North West Thames Regional Genetics Service,undefined

来源：

Nature Genetics | 2012年 / 44卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Joris Vermeesch, Raoul Hennekam and colleagues show that missense mutations in the SWI/SNF family member gene SMARCA2 cause Nicolaides-Baraitser syndrome, a disorder characterized by sparse hair, distinctive facial morphology, distal limb anomalies and intellectual disability. The mutations cluster to sequences encoding ultra-conserved motifs in the catalytic ATPase region of the protein and likely act in a dominant-negative or gain-of-function fashion.

引用

页码：445 / 449

页数：4

共 50 条

[1] Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Van Houdt, Jeroen K. J.
Nowakowska, Beata Anna
Sousa, Sergio B.
van Schaik, Barbera D. C.
Seuntjens, Eve
Avonce, Nelson
Sifrim, Alejandro
Abdul-Rahman, Omar A.
van den Boogaard, Marie-Jose H.
Bottani, Armand
Castori, Marco
Cormier-Daire, Valerie
Deardorff, Matthew A.
Filges, Isabel
Fryer, Alan
Fryns, Jean-Pierre
Gana, Simone
Garavelli, Livia
Gillessen-Kaesbach, Gabriele
Hall, Bryan D.
Horn, Denise
Huylebroeck, Danny
Klapecki, Jakub
Krajewska-Walasek, Malgorzata
Kuechler, Alma
Lines, Matthew A.
Maas, Saskia
MacDermot, Kay D.
McKee, Shane
Magee, Alex
de Man, Stella A.
Moreau, Yves
Morice-Picard, Fanny
Obersztyn, Ewa
Pilch, Jacek
Rosser, Elizabeth
Shannon, Nora
Stolte-Dijkstra, Irene
Van Dijck, Patrick
Vilain, Catheline
Vogels, Annick
Wakeling, Emma
Wieczorek, Dagmar
Wilson, Louise
Zuffardi, Orsetta
van Kampen, Antoine H. C.
Devriendt, Koenraad
Hennekam, Raoul
Vermeesch, Joris Robert
NATURE GENETICS, 2012, 44 (04) : 445 - U261
[2] Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant
Karaer, Kadri
CLINICAL DYSMORPHOLOGY, 2020, 29 (04) : 189 - 192
[3] Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion
Foley, Ross
Duignan, Sophie
McArdle, Linda
Betts, David R.
Green, Andrew
McMahon, Colin J.
CARDIOLOGY IN THE YOUNG, 2022, 32 (05) : 821 - 823
[4] New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Eric Chater-Diehl
Resham Ejaz
Cheryl Cytrynbaum
Michelle T. Siu
Andrei Turinsky
Sanaa Choufani
Sarah J. Goodman
Omar Abdul-Rahman
Melanie Bedford
Naghmeh Dorrani
Kendra Engleman
Josue Flores-Daboub
David Genevieve
Roberto Mendoza-Londono
Wendy Meschino
Laurence Perrin
Nicole Safina
Sharron Townshend
Stephen W. Scherer
Evdokia Anagnostou
Amelie Piton
Matthew Deardorff
Michael Brudno
David Chitayat
Rosanna Weksberg
BMC Medical Genomics, 12
[5] In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome
Wolff, D.
Endele, S.
Azzarello-Burri, S.
Hoyer, J.
Zweier, M.
Schanze, I.
Schmitt, B.
Rauch, A.
Reis, A.
Zweier, C.
MOLECULAR SYNDROMOLOGY, 2011, 2 (06) : 237 - 244
[6] New SMARCA2 Mutation in a Patient with Nicolaides-Baraitser Syndrome and Myoclonic Astatic Epilepsy
Tang, S.
Hughes, E.
Lascelles, K.
Simpson, M. A.
Pal, D. K.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (01) : 195 - 199
[7] New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Chater-Diehl, Eric
Ejaz, Resham
Cytrynbaum, Cheryl
Siu, Michelle T.
Turinsky, Andrei
Choufani, Sanaa
Goodman, Sarah J.
Abdul-Rahman, Omar
Bedford, Melanie
Dorrani, Naghmeh
Engleman, Kendra
Flores-Daboub, Josue
Genevieve, David
Mendoza-Londono, Roberto
Meschino, Wendy
Perrin, Laurence
Safina, Nicole
Townshend, Sharron
Scherer, Stephen W.
Anagnostou, Evdokia
Piton, Amelie
Deardorff, Matthew
Brudno, Michael
Chitayat, David
Weksberg, Rosanna
BMC MEDICAL GENOMICS, 2019, 12 (1)
[8] TWO TURKISH CASES with NICOLAIDES-BARAITSER SYNDROME PRESENTING A NOVEL SMARCA2 VARIANT
Karaer, K.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1883 - 1883
[9] A variant outside the catalytic domain of SMARCA2 is associated with a phenotype distinct from Nicolaides-Baraitser syndrome
Cappuccio, G.
Torella, A.
Pinelli, M.
Nigro, V.
Consortium, T.
Hennekam, R.
Brunetti-Pierri, N.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 996 - 997
[10] Supernumeraries in Nicolaides-Baraitser Syndrome
Al-Tamimi, Bouthayna
Abela, Stefan
Jeremiah, Huw G.
Evans, Robert D.
INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, 2017, 27 (06) : 583 - 587

← 1 2 3 4 5 →