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Letter
Nature Genetics 36, 994–998 (1 September 2004) | doi:10.1038/ng1418
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
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Abstract
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease, nephronophthisis and hydrocephalus. We proposed that the pleiotropic phenotype of Bardet-Biedl syndrome (BBS), which encompasses retinal degeneration, truncal obesity, renal and limb malformations and developmental delay, is due to dysfunction of basal bodies and cilia.
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