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Condition report · Neurological

ARFGEF1-Related Neurodevelopmental Disorder

A rare neurodevelopmental condition causing developmental delay, intellectual disability and behavioural differences, sometimes with seizures. It is caused by changes in one copy of the ARFGEF1 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal dominant

Caused by changes in one copy of ARFGEF1, a gene involved in vesicle trafficking and nerve fibre growth, which reduce the amount of working protein. Variants can arise de novo or be inherited from a parent who may be mildly affected.

Signs and symptoms

Developmental delay and intellectual disability are typical. Behavioural problems are common, and epilepsy has occurred in almost half of people.

What a diagnosis changes

Developmental and educational support, with behavioural care and seizure treatment when needed. Because changes can be inherited from mildly affected parents, genetic counselling and parental testing help clarify recurrence risk.

Genes analysed

MONDO:0859263OMIM 619964MedGen 1811329Sources: [1][2]

References

  1. Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S et al., 2021. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genetics in medicine : official journal of the American College of Medical Genetics
  2. Xu L, Zhou Y, Ren X, Xu C, Ren R, Yan X et al., 2022. Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder. Frontiers in molecular neuroscience

Other neurological conditions

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