Neurodevelopmental delay associated with KDM6B gene variants : Description of the clinical and neurological phenotype

Targeted gene(s)/phenotype under study: KDM6B

Abstract : It has been described recently that variations in the KDM6B gene cause a neurodevelopmental disorder characterized by motor and speech delay of variable severity, often associated with mild facial peculiarities and skeletal anomalies (article by Stolerman ES et al., 2019, American Journal of Medical Genetics). Our goal is to expand the knowledge on this syndrome, and in particular on its neurological features, by collecting clinical information on novel patients diagnosed with KDM6B defects. At present, we cannot anticipate whether future research might be able to develop specific therapeutic strategies. In the short term, however, collecting and studying clinical data from new patients is expected to result in an earlier diagnosis and a better, specifically tailored assistance for individuals affected by this condition.

We would like to gather the clinical data, the brain MRI CDs and the EEGs in order to see whether there is a neuroradiological and EEG phenotype.

For the moment the protocol is available only in Italian, but the English version will be issued as soon as possible. The recruitment form is bi-lingual, in Italian and in English.

Coordinating clinician: Dr Livia Garavelli

Institution (dept, hospital, City):

AUSL Reggio-Emilia

Dipartimento  Materno-Infantile

AUSL IRCCS  Arcispedale S.Maria Nuova

Viale Risorgimento, 80

42123-Reggio Emilia ITALY

Contact email:

Specific requirements beyond clinical data and genotype data sharing: 

  • Re-analysis of DNA samples :  N  
  • Resampling of patients No if the trio is available : N
  • Linked to a translational/basic research project? Y