Functional studies of variants in RBM10

Targeted gene(s)/phenotype under study :

  • RBM10 (OMIM 300080)

Abstract :

Loss of function variants in RBM10 are well known to cause TARP-syndrome, a severe X-linked recessive syndrome with malformations, global developmental delay, and early death of affected males. Missense variants in the RBM10-gene have so far not been proven to be pathogenic. We have collected a cohort of families with RBM10-variants – missense variants, splice variants and loss of function variants – and we are conducting a PhD study of the genotype-phenotype correlation and supporting functional studies.

We welcome further cases of rare variants in the RBM10-gene – all types of variants are included.

Coordinating clinician/researcher: Christina Fagerberg

Institution :

Department of Clinical Genetics

Odense University Hospital

Odense, Denmark

Contact :

Specific requirements beyond clinical data and genotype data sharing:

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