Abstract
In this report, we describe a 5-year-old boy with global developmental delay who presented
for medical genetic evaluation. We performed whole exome sequencing that revealed
the involvement of a heterogenous variant p.Gln1248Ter (CAG > TAG): c.3742 C > T inherited
de novo in exon 5 of HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2; NM_006734.3). The
gene variant p.Q1248* is interpreted to be associated as a cause of the intellectual
disability. We review pathomechanisms of HIVEP2 and discuss the reasoning behind the pathogenicity of this novel variant. To the
best of our knowledge, this the first reported case that demonstrates the p.Q1248*
variant as pathogenic.
Keywords
HIVEP2 variant - developmental delay - whole exome sequencing
