Novel Variant p.Q1248* is Associated with Developmental Delay: A Case Report.

J Pediatr Genet

Department of Genomic and Personalized Medicine, The Atwal Clinic, Jacksonville, Florida, United States.

Published: September 2019

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 (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 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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688883PMC
http://dx.doi.org/10.1055/s-0039-1683973DOI Listing

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