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MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes 

MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes
Chapter:
MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes
Author(s):

Leslie G. Biesecker

DOI:
10.1093/med/9780199934522.003.0026
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date: 07 March 2021

McKusick–Kaufman syndrome (MKKS) is a rare pleiotropic syndrome originally described among the Amish that comprises polydactyly, hydrometrocolpos, and congenital heart disease (CHD) (Kaufman et al., 1972) (Fig. 132–1). Bardet–Biedl syndrome (BBS) is more common and manifests wider pleiotropy, comprising polydactyly, retinal degeneration, obesity, mental retardation, renal anomalies, and a wide array of other less common malformations (Beales et al., 1999). Both of these developmental anomaly syndromes can be caused by mutations in the MKKS gene (also known as BBS6) (Katsanis et al., 2000; Slavotinek et al., 2000; Stone et al., 2000) and are inherited in an autosomal recessive pattern, although rare families with BBS have evidence of more complex inheritance (Katsanis et al., 2001; Badano and Katsanis, 2002). BBS is genetically heterogeneous, and the MKKS phenotype is a mild and distinct form of BBS (see Chapter XXX for a complete discussion of BBS). The MKKS gene encodes a putative group II chaperonin of the Hsp60 type (Mukherjee et al., 2010). Interestingly, two other BBS gene, BBS10 and BBS12, also are members of this family as well. These data connect the pathogenesis of BBS and MKKS to protein folding or misfolding and centrosome function.

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