SHORT RIB THORACIC DYSPLASIA extended panel

CEP120, CSPP1, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60

Description

Scientific Background

Jeune syndrome/short rib thoracic dysplasia is a disease with autosomal recessive inheritance. Nephronophthisis in combination with short stature, a narrow thorax with short ribs, polydactyly and retinopathy is called short rib-polydactyly syndrome, Jeune syndrome or Ellis-van Creveld syndrome. This group of diseases shows great gene locus heterogeneity, and about 20 associated genes are currently known. Similar to nephronophthisis, Jeune syndrome/short rib thoracic dysplasia is counted among the ciliopathies.

 

References

Emiralioglu et al. 2018, Clin Respir J 12:1017 / Schmidts 2014, J Pediatr Genet 3:46 / Barker et al. 2014, Organogenesis 10:96 / Romani et al. 2013, Lancet Neurol 12:894 / Ronquillo et al. 2012, Vision Res 75:88 / Brugmann et al. 2010, Am J Med Genet A 152A:2995

GENES

CEP120, CSPP1, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60
How to order