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lissencephaly due to TUBA1A mutation (LIS3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly due to TUBA1A mutation

MONDO:0012703

Also known as:LIS3lissencephaly 3

Overview

Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.

GeneticsAutosomal dominant · TUBA1A (chr 12)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Enlarged brain ventricles (ventriculomegaly), Global developmental delay, and Dysgenesis of the basal ganglia; and common findings: Bilateral tonic-clonic seizure, Hypoplasia of the brainstem, Seizure, and Agenesis of corpus callosum and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Bilateral tonic-clonic seizure, Hypoplasia of the brainstem, Seizure

Genetic Landscape

TUBA1A function has not been fully characterized.

Lissencephaly due to TUBA1A mutation is associated with mutations in the TUBA1A gene on chromosome 12.

Diagnosis

Genetic testing for TUBA1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lissencephaly due to TUBA1A mutation has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 16 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lissencephaly due to TUBA1A mutation.

5 publications have been identified in PubMed for lissencephaly due to TUBA1A mutation. Research spans Case Report / Case Series (60%), Diagnostic / Biomarker (20%), and Epidemiology / Natural History (20%).

Recent Publications

Proepper CR (2026). [PMID: 42177523](https://pubmed.ncbi.nlm.nih.gov/42177523/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Furukawa S (2024). [PMID: 39123069](https://pubmed.ncbi.nlm.nih.gov/39123069/). *J Hum Genet*. [Diagnostic / Biomarker]
Srivastava P (2024). [PMID: 38912084](https://pubmed.ncbi.nlm.nih.gov/38912084/). *Cureus*. [Case Report / Case Series]
Ren S (2024). [PMID: 38813542](https://pubmed.ncbi.nlm.nih.gov/38813542/). *Front Pediatr*. [Case Report / Case Series]
Saidin A (2024). [PMID: 39202391](https://pubmed.ncbi.nlm.nih.gov/39202391/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611603

Orphanet

European rare disease database

Orphanet:171680

GARD

Genetic and Rare Diseases Info Center

GARD:17066

Questions for Your Care Team

→Should I pursue genetic testing for TUBA1A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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lissencephaly due to TUBA1A mutation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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