New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

S. Tang; E. Hughes; K. Lascelles; M. A. Simpson; D. K. Pal

doi:10.1002/ajmg.a.37935

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

S. Tang^*, E. Hughes, K. Lascelles, M. A. Simpson, D. K. Pal

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Abstract

We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis.

Original language	English
Journal	American Journal of Medical Genetics. Part A
Early online date	26 Sept 2016
DOIs	https://doi.org/10.1002/ajmg.a.37935
Publication status	E-pub ahead of print - 26 Sept 2016

Keywords

Myoclonic astatic epilepsy
Nicolaides-Baraitser syndrome
SMARCA2

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New SMARCA2 mutation_Firstonline26September2016_TANG_GOLD VoRFinal published version, 876 KBLicence: CC BY

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AU - Tang, S.

AU - Hughes, E.

AU - Lascelles, K.

AU - Simpson, M. A.

AU - Pal, D. K.

PY - 2016/9/26

Y1 - 2016/9/26

N2 - We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis.

AB - We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis.

KW - Myoclonic astatic epilepsy

KW - Nicolaides-Baraitser syndrome

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JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

ER -

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

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Keywords

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