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Somatic mosaicism in hypothalamic hamartoma.

Timothy E Green¹, Samuel F Berkovic², Michael S Hildebrand¹

¹Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Parkville, Victoria 3052, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia.

Current Opinion in Genetics & Development

|May 19, 2026

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Somatic mosaicism, previously rare in non-cancerous neurological disorders, is now a major cause of brain malformations and tumors. This genetic mechanism shows a continuum from somatic to germline mutations, impacting conditions like epilepsy.

Area of Science:

Neurogenetics
Developmental Neuroscience
Cancer Genetics

Background:

Somatic mosaicism is the primary genetic mechanism in cancers.
Previously considered rare in non-malignant neurological disorders, somatic mosaicism is now recognized as a significant factor.
Recent findings highlight its role in various brain malformation syndromes and developmental tumors.

Purpose of the Study:

To investigate the role of somatic mosaicism in non-malignant neurological disorders, particularly those associated with epilepsy.
To explore the genetic underpinnings of brain malformations and developmental tumors.
To establish the relationship between somatic and germline genetic variations.

Main Methods:

Analysis of DNA samples from surgically removed brain tissue, compared with peripheral tissue samples.

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Focus on unilateral malformations, developmental tumors associated with epilepsy, and epilepsy with hypothalamic hamartoma.

Investigation of somatic variants in sonic hedgehog pathway genes and primary cilia genes.

Main Results:

Somatic mosaicism is a major cause of diverse brain malformation syndromes and developmental tumors.
The study identified relevant somatic genetic variants in sporadic cases of epilepsy with hypothalamic hamartoma.
Findings include single somatic variants in sonic hedgehog pathway genes and two-hit germline/somatic variants in primary cilia genes.

Conclusions:

Somatic mosaicism is a key genetic mechanism in various non-malignant neurological disorders.
The identified genetic variants in hypothalamic hamartoma cases establish a link between somatic and germline mutations.
These findings suggest a somatic to germline continuum in the genetic etiology of certain neurological conditions.