Recurrent De Novo MECOM Nonsense Variant

This webinar presented and discussed a complex clinical case highlighting the role of advanced genomic testing and variant interpretation in the prenatal setting. Dr. Hannah Cox reviewed a prenatal case featuring a single umbilical artery, clubfoot, and a congenital heart defect. 

A quintet genome analysis was performed in the context of a positive family history of pregnancy demise. Genetic findings, including a novel de novo nonsense variant in MECOM associated with a highly variable inborn error of immunity and inherited bone marrow failure syndrome, were discussed in the context of diagnostic challenges, variant interpretation, and clinical implications. The discussion emphasized the value of comprehensive genomic approaches in the prenatal setting, where phenotypic information is typically limited.

Explore more case reviews from our Grand Rounds in Genomics Medicine sessions here.

Speaker

Dr. Hannah Cox
Manager, Molecular Genetics and Variant Science | Precision Diagnostic Laboratory
Children's Hospital of Colorado