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GENATLAS PHENOTYPE
last update : 02-07-2009
Symbol BBS11
Location 9q33.1
Name Bardet-Biedl syndrome 11
Corresponding gene TRIM32
Main clinical features
  • retinitis pigmentosa, mental retardation, polydactyly, obesity, hypogenitalism, nephronophtisis and urinary tract malformation
  • peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS (Marion 2009)
    • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown P130S, in N-terminal B-box domain
    Remark(s)
  • mutation in the B-box of TRIM32 causes Bardet-Biedl syndrome type 11 (Kudriashova 2009)
  • mutation may cause defects in vesicular transport to the cilium (Nachury 2007)