This website provides information on patients with mutations in the WDR35 gene (WD-repeat domain 35), including clinical data, molecular data, management and research options.
Defects in the WDR35 gene are associated with Sensenbrenner syndrome (#OMIM 613610, cranioectodermal dysplasia, CED2) and short-rib thoracic dysplasia 7 with or without polydactyly (#OMIM 614091, SRTD7). SRTD group of disorders encompasses also Ellis-van Creveld syndrome (EvC), Asphyxiating thoracic dystrophy (JATD) and Mainzer-Saldino syndrome (MZSDS). Variants in this gene have also been described in patients with EvC and JATD.
WDR35 changes are inherited in an autosomal recessive manner. Most affected children have biallelic compound heterozygous variants. To date 39 mutations have been identified in this gene.
Syndromes caused by WDR35 defects are multisystem disorders known as ciliopathies and are characterized by short stature, dolichocephaly, epicanthus, narrow chest, limb shortening, brachydactyly, postaxial polydactyly, syndactyly, and ectodermal abnormalities (small teeth, dental fusion, sparse eyebrows). Renal insufficiency is a common feature that often leads to end-stage renal disease (ESRD) in infancy/childhood and requires a renal transplantation. ESRD is a major cause of morbidity and mortality in affected individuals. Liver disease, retinal dystrophy, and intellectual disability might be also present in patients with WDR35 changes.
Not all individuals with a mutation(s) in the WDR35 gene have these features. This depends on the phenotype diagnosed in an affected individual.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the WDR35 gene.
Joanna Walczak-Sztulpa, PhD, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland, email@example.com