Bardet-Biedl syndrome type 14

(redirected from BBS14)

Bardet-Biedl syndrome type 14

An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. It is variably accompanied by diabetes mellitus, hypertension and congenital heart disease. BBS is more common in mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, due a founder effect stemming from the high rate of consanguinity in these populations.
 
Molecular pathology
BBS14 is caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and which may regulate cilia membrane composition.