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Phenotypic characterization of a WBP11-related pseudo-VATER syndome

Targeted gene/phenotype/disorder under study:
WBP11 (OMIM # 619227)

WBP11 (WW domain binding protein 11) plays a critical role in mRNA processing and the Notch signaling pathway. Loss-of-function WBP11 variants have previously been associated with VATER association (PMID: 33276377).
We have identified a family with dominantly inherited deleterious WBP11 variation. Clinical features include complex segmentation defects, kidney hypoplasia, and prenatal cerebellar stroke.
We aim to characterize the phenotypic spectrum of this dominant VATER association associated with WBP11 variants. We actively seek clinical, radiological, and genetic data to complement our ongoing study.

Coordinating clinicians
Pr Alain VERLOES –

Department of Genetics, Robert-Debré University Hospital, AP-HP, Paris, France

Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No

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