SHORT RIB THORACIC DYSPLASIA core panel

DYNC2H1, IFT80, NEK1, TTC21B, WDR34

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

DYNC2H1, IFT80, NEK1, TTC21B, WDR34
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