Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

By N. Katsanis, S. J. Ansley, José L. Badano, E. Eichers, R. Lewis, B. Hoskins, P. Scambler, W. Davidson, P. Beales, J. R. Lupski. Science, 2001

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Leber congenital amaurosis: genes, proteins and disease mechanisms. (2008, background): “Triallelic inheritance has been recognized in families with BBS, a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and mental retardation (Katsanis et al., 2001).”
Mendelian Inheritance in Man and Its Online Version, OMIM (2007, neutral): “Katsanis et al. 66 reported several families in which Bar-det-Biedl syndrome (BBS [MIM #209900]) showed what they termed “triallelic inheritance”—for example,patients with BBS who are homozygous for a missense mutation in the MKKS gene (MIM *604896.0003) and heterozygous for a mutation in the BBS2…”
Genes and mutations causing retinitis pigmentosa (2013, background): “Since digenic forms of RP and triallelic forms of BBS are already known, polygenic inheritance of retinal diseases cannot be discounted (54, 55).”
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. (2004, background): “Therefore, we conclude trance (Katsanis et al., 2001) or expressivity (Badano et the binding site for the RFX transcription factor DAF-19 (Schafer et al., 2003; Swoboda et al., 2000).”