Targeted gene under study:

RNU4ATAC (OMIM*601428)


RNU4ATAC is a non-coding gene transcribed into the minor spliceosome component U4atac snRNA. Biallelic variants in RNU4ATAC are responsible for Taybi-Linder, Roifman, Lowry-Wood and Joubert syndromes. The severe classic form is characterised by microcephalic primordial dwarfism, multiple congenital and neurodevelopmental abnormalities.

We work within the GenDev team (Inserm U1028) from Hospices Civils de Lyon (HCL) and Centre de Recherche en Neurosciences de Lyon (CRNL), which contributed to the discovery of pathogenic variants in RNU4ATAC and carries out functional explorations in these rare disorders.

The aim of this call for collaboration is to collect clinical data, to publish a large cohort of new cases, in order to extend the phenotype of RNU4ATAC-related disorders.

Depending on the variants found, functional studies could also be carried out on patient cells.

Coordinating clinicians

Silvestre CUINAT, M.D, PhD student – 

Sylvie MAZOYER, PhD –

Marion DELOUS, PhD –

Audrey PUTOUX, M.D, PhD –

Patrick EDERY, M.D, PhD –


Equipe GenDev (Inserm U1028) Centre de Recherche en Neurosciences de Lyon (CRNL), Hospices Civils de Lyon (HCL), Lyon, France

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: Case by case

3- Linked to a translational/basic research project: Yes