Bardet-Biedl syndrome type 8

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Bardet-Biedl syndrome type 8

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
Defects of TTC8, which encodes a protein that is part of the BBSome complex and required for ciliogenesis, cause Bardet-Biedl syndrome type 8.
References in periodicals archive ?
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
The BBSome is a stable protein complex involved in the biogenesis of the PC, which is formed by seven highly conserved BBS proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9) and by the protein BBSome-interacting protein of 10 KDa (BBIP10) [27-29].
Furthermore, the gene's protein, BBS8, is found only at the base of cilia.
They recently published a paper in the science journal Nature in collaboration with their British and American colleagues' on the discovery of BBS8, the sixth gene linked to the development of Bardet-Biedl Syndrome (BBS).