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Title: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Authors: Van Houdt, Jeroen
Nowakowska, Beata
Sousa, Sérgio B
van Schaik, Barbera D C
Seuntjens, Eve
Avonce, Nelson
Sifrim, Alejandro
Abdul-Rahman, Omar A
van den Boogaard, Marie-José
Bottani, Armand
Castori, Marco
Cormier-Daire, Valérie
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
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 # ×
Issue Date: Apr-2012
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:44 issue:4 pages:445-449
Article number: 10.1038/ng.1105
Abstract: Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NBS; these mutations were confirmed to be de novo when parental samples were available. SMARCA2 encodes the core catalytic unit of the SWI/SNF ATP-dependent chromatin remodeling complex that is involved in the regulation of gene transcription. The mutations cluster within sequences that encode ultra-conserved motifs in the catalytic ATPase region of the protein. These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Imaging & Pathology - miscellaneous
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Embryo and Stemcells (-)
Molecular Microbiology and Biotechnology Section - miscellaneous
Laboratory for Cytogenetics and Genome Research
Laboratory for Molecular Cell Biology (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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