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DOI 10.1038/ng.1105

Медицинская библиотека · Nature genetics · 2012

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt Jeroen K J, Nowakowska Beata Anna, Sousa Sérgio B, van Schaik Barbera D C, Seuntjens Eve, Avonce Nelson, Sifrim Alejandro, Abdul-Rahman Omar A, van den Boogaard Marie-José H, 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 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

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Аннотация

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.

Для цитирования: Van Houdt Jeroen K J, Nowakowska Beata Anna, Sousa Sérgio B, van Schaik Barbera D C, Seuntjens Eve, Avonce Nelson, Sifrim Alejandro, Abdul-Rahman Omar A, van den Boogaard Marie-José H, 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 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. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.. Nature genetics. 2012. DOI: 10.1038/ng.1105.

Предметные рубрики MeSH

AdolescentAdultAmino Acid SequenceBase SequenceChildChild, PreschoolChromatin Assembly and DisassemblyChromosomal Proteins, Non-HistoneFaciesFoot Deformities, CongenitalGenes, RegulatorHumansHypotrichosisInfantIntellectual DisabilityMaleMolecular Sequence DataMutation, MissenseSequence AlignmentSequence Analysis, DNATranscription FactorsTranscription, GeneticYoung Adult
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