Targeted gene/syndrome under study

LRRC8A (OMIM #608360)


Dear colleagues,

We have identified a de novo missense variant of the LRRC8A gene, a gene not clearly involved in human pathology, in a young patient with prenatal onset of growth retardation, psychomotor delay, learning disabilities, and distinctive facial features. Another patient with similar features have been identified with GeneMatcher. Only one patient is reported in the literature with a translocation that interrupts this gene and who presents agammaglobulinemia and facial dysmorphism. It is difficult to make conclusion at this stage. We are therefore looking for other patients with variants of this gene to compare phenotypes.

Thank you for your collaboration.

Coordinating clinicians/researchers

Dr CHATRON Nicolas –

Dr PUTOUX Audrey –


Hospices Civils de Lyon HCL – 69500 – France

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