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Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy 

Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy
Chapter:
Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy
Author(s):

Joanna Walczak-Sztulpa

and Anna Latos-Bielenska

DOI:
10.1093/med/9780199934522.003.0025
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date: 25 February 2021

Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), was first described by Judith A. Sensenbrenner in 1975. CED is a rare autosomal recessive disorder (with prevalence < 1/1,000,000 birth) that has recently been classified as a ciliopathy [Sensenbrenner et al., 1975; Walczak-Sztulpa et al., 2010). Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. Nephronophthisis and hepatic fibrosis as well as retinitis pigmentosa has also been reported in some patients with Sensenbrenner syndrome. About 40 cases have been reported to date. CED is a heterogeneous genetic disorder and recently four genes: IFT122, IFT121, IFT43 and IFT144, have been associated with Sensenbrenner syndrome, all encoding proteins that are part of the intraflagellar transport complex A which is involved in retrograde ciliary transport [Arts et al. 2011; Bredrup et al., 2011; Gillisen et al., 2010; Walczak-Sztulpa et al., 2010]. Intraflagellar transport (IFT) is essential and plays an important role in the assembly, maintenance and function of cilia. Identification of causal genes has led to substantial progress in understanding of the genetic basis of Sensenbrenner syndrome as well as explaining the clinical variability observed among the CED patients.

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