3rd Edition of Euro-Global Conference on Biotechnology and Bioengineering

June 14-15 | Online Event

June 14-15, 2023 | Online Event
ECBB 2023

Al Mehdi Krami

Al Mehdi Krami, Speaker at Biotechnology Conferences
Pasteur Institute of Morocco, Morocco
Title: A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability


Intellectual disability is characterized by a significant impaired intellectual and adaptive functioning, affecting approximately 1 to 3% of the population, which can be caused by a variety of environmental and genetic factors. In this respect, de novo heterozygous HECW2 variants were associated recently with neurodevelopmental disorders associated to hypotonia, seizures, and absent language. HECW2 encodes an E3 ubiquitin-protein ligase that stabilizes and enhances transcriptional activity of p73, a key factor regulating proliferation, apoptosis, and neuronal differentiation, which are together essential for proper brain development.Here, using whole exome sequencing, we identified a homozygous nonsense HECW2 variant: c.736C>T; p.Arg246* in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head. Thus this study describes the first homozygous HECW2 variant, inherited as an autosomal recessive pattern, contrasting with former reported de novo variants found in HECW2 patients