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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 06-07-2009
Symbol BBS4
Location 15q24.1
Name Bardet-Biedl syndrome 4
Corresponding gene BBS4
related resource Retinal Information Network
Main clinical features
  • early-onset obesity, mental retardation, polydactyly of hands, retinitis pigmentosa, hypogonadism (Bedouin kindred), nephronophtisis and urinary tract malformation, hepatorenal fibrocystic 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
    mental retardation
    Type disease
    Gene product
    Name BBS4 protein
  • mutations are minor contributors to BBS4, and may participate in triallelic inheritance with BBS2 and BBS1
  • mutation may cause defects in vesicular transport to the cilium (Nachury 2007)
  • interactions between RET and BBS4 would explain the frequent coexpression with Hirschsprung disease phenotypes (de Pontual 2009)