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GENATLAS PHENOTYPE
last update : 06-07-2009
Symbol BBS6
Location 20p12.2
Name Bardet Biedl syndrome 6
Corresponding gene MKKS
Main clinical features
  • obesity, mental retardation, polydactyly, retinitis pigmentosa, hypogonadism, renal malformation ( nephronophtisis and urinary tract malformation, hepatorenal fibocystic syndrome) with a symptomalogy overlapping the McKusick Kaufman syndrome
  • peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS (Marion 2009)
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    eye
    mental retardation
    Type disease
    Remark(s)
  • McKusick Kaufman syndrome gene MKKS, participating in triallelic inheritance with BBS2
  • mutation may cause defects in vesicular transport to the cilium (Nachury 2007)
  • MKKS mutants have an abnormal conformation and chaperone-dependent degradation mediated by CHIP is a key feature of MKKS/BBS diseases (HIrayama 2008)