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Exonic deletion of OPHN1 resulting in seizures, intellectual disability, and brain malformations

Authors Larson A, LeRoux J, Elias ER

Received 17 March 2014

Accepted for publication 24 April 2014

Published 14 July 2014 Volume 2014:4 Pages 107—113

DOI https://doi.org/10.2147/AGG.S63848

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 4

Austin Larson,1 Jamie LeRoux,2 Ellen Roy Elias1

1Department of Pediatrics, University of Colorado Denver Anschutz Medical Campus, Aurora, CO, USA; 2Colorado Genetics Laboratory, Denver, CO, USA

Abstract: We report the case of a 9-year-old boy with autism, intellectual disability, and complex partial seizures as well as cerebellar vermian hypoplasia, caudate nucleus hypoplasia, and ventriculomegaly. He was found to have a deletion within the oligophrenin 1 gene (OPHN1), affecting exons 2–5. OPHN1 mutations result in a rare but well-characterized syndrome of neuroanatomical anomalies, epilepsy, and intellectual disability. This is a novel mutation in OPHN1 that adds to the spectrum of pathogenic variants of the gene. Additionally, the case illustrates the significant benefit that patients and families can derive from a definitive genetic diagnosis, even in the absence of direct therapeutic interventions.

Keywords: X-linked intellectual disability, autism, cerebellar hypoplasia, chromosomal microarray, oligophrenin 1

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