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Biallelic mutations in human DCC cause developmental split-brain syndrome.

Saumya S Jamuar^1,2,3,4,5, Klaus Schmitz-Abe^1,2,4, Alissa M D'Gama^1,4,5

¹Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.

Nature Genetics

|March 3, 2017

Summary

This summary is machine-generated.

Biallelic mutations in the DCC gene cause a new human syndrome characterized by disrupted brain commissures, leading to horizontal gaze palsy, scoliosis, and intellectual disability. This highlights DCC's crucial role in central nervous system development.

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Area of Science:

Neuroscience
Human Genetics
Developmental Biology

Background:

Brain development relies on midline-bridging neuronal commissures for coordinated motor, sensory, and integrative functions.
Mutations in the deleted in colorectal carcinoma (DCC) gene are linked to congenital mirror movements in heterozygotes.
The human phenotype of biallelic DCC loss-of-function has not been previously reported.

Purpose of the Study:

To identify the genetic cause and characterize the human phenotype of a novel syndrome involving disrupted brain commissures.
To elucidate the role of the DCC gene in the development of white matter tracts in the human central nervous system (CNS).

Main Methods:

Clinical evaluation of affected individuals presenting with horizontal gaze palsy, scoliosis, and intellectual disability.
Genetic analysis to identify mutations in the DCC gene.
Structural Magnetic Resonance Imaging (MRI) and diffusion tractography to assess white matter organization in the CNS.

Main Results:

Affected individuals exhibited biallelic loss-of-function mutations in the DCC gene.
Broad disorganization of CNS white matter tracts, including the absence of commissural tracts at multiple levels, was observed.
These findings indicate DCC is essential for midline crossing and white matter development.

Conclusions:

DCC is a critical regulator of midline crossing and the development of white matter projections throughout the human CNS.
Biallelic loss-of-function mutations in DCC result in a distinct human syndrome with severe neurological and developmental consequences.
This study expands the known phenotypic spectrum of DCC mutations and underscores its importance in neurodevelopment.