Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

WD repeat-containing protein 34

The WDR34 gene encodes a protein that is involved in various processes of cell regulation. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 11.


Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 11



Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.


Gao D et. al. (2009) WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.


Huber C et. al. (2013) WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.


Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Update: Sept. 26, 2018