| Title: |
Novel Genetic Variant in HUWE1 |
| Authors: |
Tortora, Mario; Cattaneo, Elisa; Spaccini, Luigina; Iascone, Maria; Scelsa, Barbara; Micalizzi, Alessia; Novelli, Antonio; Lanna, Mariano; Righini, Andrea; Veggiotti, Pierangelo; Doneda, Chiara |
| Contributors: |
M. Tortora; E. Cattaneo; L. Spaccini; M. Iascone; B. Scelsa; A. Micalizzi; A. Novelli; M. Lanna; A. Righini; P. Veggiotti; C. Doneda |
| Publisher Information: |
Lippincott Williams and Wilkins |
| Publication Year: |
2024 |
| Collection: |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| Subject Terms: |
Settore MEDS-20/B - Neuropsichiatria infantile |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/39139262; info:eu-repo/semantics/altIdentifier/wos/WOS:001262997000001; volume:10; issue:4; firstpage:1; lastpage:5; numberofpages:5; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/2434/1158171 |
| DOI: |
10.1212/nxg.0000000000200169 |
| Availability: |
https://hdl.handle.net/2434/1158171; https://doi.org/10.1212/nxg.0000000000200169 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.F486E37B |
| Database: |
BASE |