Targeted syndrom under study



DOP1A is a protein mainly expressed in brain, implicated in vesicle transport between the Golgi apparatus and endosomes using microtubules and interacts with other protein mutated in neurodevelopmental disorders (Mahajan et al. 2019). Rat models have associated with myelinization disorders. (Tanaka et al. 2014)

In our laboratory we identified a DOP1A frameshift variation in a boy with mild to moderate intellectual disability associated with behavior disorders and normal growth. He had early hypotonia, transitory ataxia and later developed aggressiveness and frustration intolerance.
He presented with high forehead, strabismus, flat and broad nasal root, micrognathia.
His MRI showed cortical atrophy, corpus callosum hypoplasia and mild brainstem hypoplasia. Abdominal and cardiac ultrasound were normal.

Our study aimed to delineate the clinical spectrum associated with DOP1A mutation and to understand its role in the neurodevelopmental disorders

Coordinating clinicians/researchers

Sarah Baer, MD, Paediatric Neurologist –
Am̩lie Piton, PhD, HDR, human geneticist Р


IGBMC, 1 rue Laurent Fries, 67 400 ILLKIRCH, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: Yes