Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants

Targeted gene(s)/phenotype under study :

  • Gene: YWHAE   

Abstract :

The Miller-Dicker syndrome is caused by a heterozygous deletion of the LIS1 and YWHAE genes in the 17p13.3 region. In 2003, Toyo-oka et al. presented evidence that the gene whose deletion is responsible for most severe Miller-Dieker cases is YWHAE. Since then, several patients with 17q13.3 deletions involving YWHAE have been reported and presented with developmental delay and cerebral abnormalities.

To this day, YWHAE loss-of-function is supposed to be pathogenic but the gene is not reported as clearly morbid yet and the associated phenotype is still not defined.

On the basis of several cases with variants in YWHAE and of the creation of a mouse model suggesting a role for YWHAE in neurodevelopmental disease, we welcome additional cases to further delineate the phenotype.

Coordinating clinicians /researchers: Laurence Faivre and Anne-Sophie Denommé-Pichon

Institution :

Genetics of Developmental Disorders

Dijon Bourgogne University HospitalInserm UMR 1231 GAD team,

Bâtiment B315 boulevard Maréchal Delattre de Tassigny

21070 Dijon Cedex, France

Contact :

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : N
  • Resampling of patients : N
  • Linked to a translational/basic research project? N