PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature. Issue 7 (2nd May 2017)

• Record Type: Journal Article
• Authors: Park, Kaylee; Seltzer, Laurie E.; Tuttle, Emily; Mirzaa, Ghayda M.; Paciorkowski, Alex R.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 7(2017)
• Page Start: 1951
• Page End: 1954
• Publication Date: 2017-05-02
• Subjects: developmental encephalopathy -- epilepsy -- PLXNA1; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38236
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder. This reports suggests that nonsynonymous de novo sequence variations in PLXNA1 are associated with a novel human phenotype characterized by intractable early onset epilepsy, intellectual disability, and syndromic features.