Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

Yue T. K. Yuen,
Ilaria Guella,
Elke Roland,
Michael Sargent and
Cyrus BoelmanEmail author View ORCID ID profile

BMC Medical Genetics201920:95

https://doi.org/10.1186/s12881-019-0827-6

Received: 29 September 2018
Accepted: 17 May 2019
Published: 31 May 2019

Open Peer Review reports

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.