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Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations Yuen, Yue T K; Guella, Ilaria; Roland, Elke; Sargent, Michael; Boelman, Cyrus

Abstract

Background: Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previously described in literature to our knowledge. Here we present two new patients with novel de novo TUBG1 mutations and review other cases in the literature. Case presentations: Both patients have microcephaly and intellectual disability. Patient B further fits a more typical presentation, with well-controlled epilepsy and mild hypertonia, whereas Patient A’s presentation is much milder without these other features. Conclusion: This report expands the spectrum of TUBG1 mutation manifestations, suggesting the possibility of less severe phenotypes for patients and families, and influencing genetic counselling strategies.

Item Metadata

Title
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
Creator
Yuen, Yue T K; Guella, Ilaria; Roland, Elke; Sargent, Michael; Boelman, Cyrus
Contributor
Djavad Mowafaghian Centre for Brain Health. Centre for Applied Neurogenetics; Children's Hospital (Vancouver, B.C.)
Publisher
BioMed Central
Date Issued
2019-05-31
Description
Background: Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previously described in literature to our knowledge. Here we present two new patients with novel de novo TUBG1 mutations and review other cases in the literature. Case presentations: Both patients have microcephaly and intellectual disability. Patient B further fits a more typical presentation, with well-controlled epilepsy and mild hypertonia, whereas Patient A’s presentation is much milder without these other features. Conclusion: This report expands the spectrum of TUBG1 mutation manifestations, suggesting the possibility of less severe phenotypes for patients and families, and influencing genetic counselling strategies.
Subject
Microcephaly; TUBG1; Tubulin; Malformations of cortical development; Intellectual disability; Epilepsy
Genre
Article
Type
Text
Language
eng
Date Available
2019-06-03
Provider
Vancouver : University of British Columbia Library
Rights
Attribution 4.0 International (CC BY 4.0)
DOI
10.14288/1.0379260
URI
http://hdl.handle.net/2429/70481
Affiliation
Medicine, Faculty of; Other UBC
Citation
BMC Medical Genetics. 2019 May 31;20(1):95
Publisher DOI
10.1186/s12881-019-0827-6
Peer Review Status
Reviewed
Scholarly Level
Faculty
Copyright Holder
The Author(s).
Rights URI
http://creativecommons.org/licenses/by/4.0/
Aggregated Source Repository
DSpace

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Attribution 4.0 International (CC BY 4.0)