Vincent CANTAGREL
Genetics of Neurodevelopmental Disorders
Published on 22.10.2025
Presentation
Neurodevelopmental disorders (NDDs) comprise a broad and heterogeneous group of conditions characterised by cognitive, communication, behavioural or motor abnormalities resulting from a neurological developmental deficit. This group includes intellectual disabilities (ID), autism spectrum disorders (ASD) and congenital ataxias, and extends to conditions such as epilepsy, schizophrenia and learning disabilities or multiple learning difficulties.
Epidemiological studies show that the co-occurrence of several neurodevelopmental disorders is common and suggest the existence of a common pathophysiological basis for many of these disorders, which should be viewed as a continuum of neurodevelopmental abnormalities. This phenotypic overlap is also observable in cases of similar genetic defects.
With an estimated prevalence of 2–3 per cent of the population, neurodevelopmental disorders account for nearly 10 per cent of total healthcare expenditure in Western countries. Furthermore, a number of learning difficulties appear to result from neurodevelopmental disorders; for example, specific language disorders, which have an even higher prevalence, estimated at 7.4 per cent, of which 1 per cent are severe cases. Understanding the biological basis of these disorders therefore constitutes a major medical and socio-economic challenge.
Within the broad group of neurodevelopmental disorders (NDDs), we are particularly interested in the involvement of the posterior part of the brain, the cerebellum. Long regarded as an organ dedicated solely to motor coordination, the cerebellum's role in cognitive functions, including language, is increasingly recognised. Part of our research is devoted to studying developmental abnormalities of the cerebellum. Generally, these abnormalities are responsible for various forms of congenital cerebellar ataxia, which often presents in early childhood as developmental delay accompanied by central hypotonia. These non-specific signs are followed by ataxia, often associated with other neurological symptoms such as intellectual disability or epilepsy.
Our research projects and objectives over recent years are summarised below:
Epidemiological studies show that the co-occurrence of several neurodevelopmental disorders is common and suggest the existence of a common pathophysiological basis for many of these disorders, which should be viewed as a continuum of neurodevelopmental abnormalities. This phenotypic overlap is also observable in cases of similar genetic defects.
With an estimated prevalence of 2–3 per cent of the population, neurodevelopmental disorders account for nearly 10 per cent of total healthcare expenditure in Western countries. Furthermore, a number of learning difficulties appear to result from neurodevelopmental disorders; for example, specific language disorders, which have an even higher prevalence, estimated at 7.4 per cent, of which 1 per cent are severe cases. Understanding the biological basis of these disorders therefore constitutes a major medical and socio-economic challenge.
Within the broad group of neurodevelopmental disorders (NDDs), we are particularly interested in the involvement of the posterior part of the brain, the cerebellum. Long regarded as an organ dedicated solely to motor coordination, the cerebellum's role in cognitive functions, including language, is increasingly recognised. Part of our research is devoted to studying developmental abnormalities of the cerebellum. Generally, these abnormalities are responsible for various forms of congenital cerebellar ataxia, which often presents in early childhood as developmental delay accompanied by central hypotonia. These non-specific signs are followed by ataxia, often associated with other neurological symptoms such as intellectual disability or epilepsy.
Our research projects and objectives over recent years are summarised below:
- Identification of new genes and genetic mechanisms involved in neurodevelopmental disorders and characterisation of the associated phenotypic spectra,
- Characterisation of rhombencephalon development abnormalities using the zebrafish model,
- Development and use of the cerebellar organoid model to study early developmental abnormalities,
- Determining the genetic basis of specific oral language disorders.
Team
Scientific Publications
-
2026
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disor..., Am J Hum Genet
-
2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC
-
2022
Natural history of Myhre syndrome., Orphanet J Rare Dis
-
2022
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet
-
2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet
-
2022
SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis
-
2021
[A disruption of inositol phosphates metabolism causes pontocerebellar hypopl..., Med Sci (Paris)
-
2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet
-
2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy., J Clin Invest
-
2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet
-
2016
Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis
-
2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ..., Am J Hum Genet
-
2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec..., Am J Hum Genet
-
2015
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ..., Nat Cell Biol
-
2008
Confirmation of RAX gene involvement in human anophthalmia., Clin Genet