Premium
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature
Author(s) -
Park Kaylee,
Seltzer Laurie E.,
Tuttle Emily,
Mirzaa Ghayda M.,
Paciorkowski Alex R.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38236
Subject(s) - intellectual disability , exome sequencing , epilepsy , exome , phenotype , global developmental delay , west syndrome , biology , medicine , pediatrics , genetics , neuroscience , gene
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.