Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

Gazdagh, G., Blyth, M., Scurr, I., Turnpenny, P. D., Mehta, S. G., Armstrong, R., McEntagart, M., Newbury-Ecob, R., Tobias, E. S. and Joss, S. (2019) Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. European Journal of Medical Genetics, 62(1), pp. 27-34. (doi:10.1016/j.ejmg.2018.04.014) (PMID:29698805)

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Abstract

In the last 3 years de novo sequence variants in the ARID2 (AT-rich interaction domain 2) gene, a subunit of the SWI/SNF complex, have been linked to intellectual disabilities in 3 case reports including one which describes frameshift mutations in ARID2 in 2 patients with features resembling Coffin-Siris syndrome. Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by intellectual deficit, coarse facial features and hypoplastic or absent fifth fingernails and/or toenails among other features. Mutations in a number of different genes encoding SWI/SNF chromatin remodelling complex proteins have been described but the underlying molecular cause remains unknown in approximately 40% of patients with CSS. Here we describe 7 unrelated individuals, 2 with deletions of the ARID2 region and 5 with de novo truncating mutations in the ARID2 gene. Similarities to CSS are evident. Although hypertrichosis and hypoplasia of the fifth finger nail and distal phalanx do not appear to be common in these patients, toenail hypoplasia and the presence of Wormian bones might support the involvement of ARID2.

Item Type:Articles
Additional Information:The DDD study presents in- dependent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003], a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute [grant numberWT098051]. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. This study makes use of DECIPHER (http://decipher.sanger.ac.uk), which is funded by the Wellcome Trust.
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Tobias, Professor Edward and Gazdagh, Dr Gabriella
Authors: Gazdagh, G., Blyth, M., Scurr, I., Turnpenny, P. D., Mehta, S. G., Armstrong, R., McEntagart, M., Newbury-Ecob, R., Tobias, E. S., and Joss, S.
Subjects:Q Science > QH Natural history > QH426 Genetics
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:European Journal of Medical Genetics
Publisher:Elsevier
ISSN:1769-7212
ISSN (Online):1878-0849
Published Online:23 April 2018
Copyright Holders:Copyright © 2018 Elsevier Masson SAS
First Published:First published in European Journal of Medical Genetics 62(1): 27-34
Publisher Policy:Reproduced in accordance with the publisher copyright policy
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