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Wolff D, Endele S, Azzarello-Burri S, et al. In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. Mol Syndromol. 2012;2(6):237-244doi: 10.1159/000337323.
Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., & Zweier, C. (2012). In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. Molecular syndromology, 2(6), 237-244. https://doi.org/10.1159/000337323
Wolff, D, et al. "In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome." Molecular syndromology vol. 2,6 (2012): 237-244. doi: https://doi.org/10.1159/000337323
Wolff D, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, Schmitt B, Rauch A, Reis A, Zweier C. In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. Mol Syndromol. 2012 Apr;2(6):237-244. doi: 10.1159/000337323. Epub 2012 Mar 16. PMID: 22822383; PMCID: PMC3362220.
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Mol Syndromol. 2012 Apr;2(6):237-244. doi: 10.1159/000337323. Epub 2012 Mar 16.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Molecular syndromology

D Wolff, S Endele, S Azzarello-Burri, J Hoyer, M Zweier, I Schanze, B Schmitt, A Rauch, A Reis, C Zweier

Affiliations

  1. Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

PMID: 22822383 PMCID: PMC3362220 DOI: 10.1159/000337323

Abstract

Using high-resolution molecular karyotyping with SNP arrays to identify candidate genes for etiologically unexplained intellectual disability, we identified a 32-kb de novo in-frame deletion of the C-terminal helicase domain of the SMARCA2 gene in a patient with severe intellectual disability, epilepsy, sparse hair, prominent joints, and distinct facial anomalies. Sequencing of the gene in patients with a similar phenotype revealed de novo missense mutations in this domain in 2 further patients, pointing to a crucial role of the SMARCA2 C-terminal helicase domain. The clinical features observed in all 3 patients are typical of Nicolaides-Baraitser syndrome, an only rarely reported syndrome with mainly moderate to severe intellectual disability. Notably, one of our patients with a p.Gly1132Asp mutation showed typical morphological features but an exceptional good development with borderline overall IQ and learning difficulties, thus expanding the phenotypic spectrum of Nicolaides-Baraitser syndrome.

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