dextrocardia-cystic renal dysplasia association
Thursday 5 January 2006
Kramer-Zucker et al. recently showed that cilia of larval zebrafish kidney tubules have a 9+2 configuration and are motile. Disruption of cilia structure or motility resulted in pronephric cyst formations, with left-right asymmetry defects.
nephronophthisis type 2 (NPHP2) is caused by germline mutations in the inversin gene (INVS) (MIM.243305)(#12872123#)
Mutations in INVS in infantile NPHP that results in both situs inversus and cardiac septal defects in humans, mice and zebrafish. Congenital cardiac malformations might be part of a heterotaxy syndrome that is caused by the same mechanism that leads to situs inversus.
bilateral renal dysplasia
- BNORD (bilateral non-obstructive renal dysplasia)
Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet. 2005 Dec;6(12):928-40. PMID: #16341073#