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 ?
Furthermore, the gene's protein, BBS8, is found only at the base of cilia.
Leroux and Blacque helped discover the BBS8 gene codes for a protein that seems to operate specifically at the base of cilia, microscopic hairs projecting from certain cells.
The information they've gathered so far indicates that BBS8 (and perhaps the other BBS genes found only in cilia) makes cilia do something important.