A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

Abstract

Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.

• Authors: Norikatsu Hikita, Hideji Hattori, Mitsuhiro Kato, Satoru Sakuma, Yoshiki Morotomi, Hiroshi Ishida, Toshiyuki Seto, Katsuji Tanaka, Taro Shimono, Haruo Shintaku, Daisuke Tokuhara
• Journal: Brain & development (Brain Dev) Vol. 36 Issue 2 Pg. 159-62 (Feb 2014) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 23528852 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Chemical References

• TUBA1A protein, human
• Tubulin

Topics

• Child
• Epilepsy (diagnosis, etiology, genetics)
• Female
• Genetic Predisposition to Disease
• Hirschsprung Disease (complications, diagnosis, genetics)
• Humans
• Lissencephaly (complications, diagnosis, genetics)
• Mutation (genetics)
• Phenotype
• Tubulin (genetics)