De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

doi:10.1038/s41436-020-0898-y

Article

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020

Cappuccio Gerarda, Sayou Camille, Tanno Pauline Le, Tisserant Emilie, Bruel Ange-Line, Kennani Sara El, Sá Joaquim, Low Karen J, Dias Cristina, Havlovicová Markéta, Hančárová Miroslava, Eichler Evan E, Devillard Françoise, Moutton Sébastien, Van-Gils Julien, Dubourg Christèle, Odent Sylvie, Gerard Bénédicte, Piton Amélie, Yamamoto Toshiyuki, Okamoto Nobuhiko, Firth Helen, Metcalfe Kay, Moh Anna, Chapman Kimberly A, Aref-Eshghi Erfan, Kerkhof Jennifer, Torella Annalaura, Nigro Vincenzo, Perrin Laurence, Piard Juliette, Le Guyader Gwenaël, Jouan Thibaud, Thauvin-Robinet Christel, Duffourd Yannis, George-Abraham Jaya K, Buchanan Catherine A, Williams Denise, Kini Usha, Wilson Kate, Sousa Sérgio B, Hennekam Raoul C M, Sadikovic Bekim, Thevenon Julien, Govin Jérôme, Vitobello Antonio, Brunetti-Pierri Nicola

Abstract excerpt

PURPOSE: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown. METHODS: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic...

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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

Abstract excerpt

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