Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype
Mario Tortora1, Elisa Cattaneo1, Luigina Spaccini1
1From the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.
Objectives:
To provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of HUWE1, particularly in relation to pontine and cerebellar hypoplasia.
Methods:
We first report prenatal and postnatal neuroradiologic phenotype of a female patient carrying a HUWE1 likely pathogenic variant and discuss its function.
Results:
An ultrasound shows borderline ventriculomegaly, rotated cerebellar vermis, and dysgenetic corpus callosum. An MR study identify a short, thin corpus callosum, falcine sinus persistence, reduced cerebellar vermis size, wide inferior IV ventricle, and reduced pontine bulging.
Discussion:
HUWE1 is a gene encoding an E3 ubitiquine ligase protein involved in nervous system development, function, and disease. The mechanisms by which HUWE1 gene affects nervous system are still largely unclear, but a growing body of literature described disease-causing variants in this gene. This report may help prenatal diagnostic experts in consider also this entity, especially when dealing with pontine and cerebellar hypoplasia findings.
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