Bardet-Biedl syndrome

From Ganfyd

Jump to: navigation, search

A group of conditions with recessive inheritance sometimes with a modifier of penetrance (triallelic inheritance) characterised by:

The described subtypes are:

  • BBS1 - on 11q13
  • BBS2 - on 16q21 - postaxial polydactyly
  • BBS3 - mutation of ADP-ribosylation factor (ARF)-like-6 gene (ARL6) on 3p12-q13 - postaxial polydactyly
  • BBS4 - on 15q22.3
  • BBS5 - on 2q31 - brachydactyly and/or syndactyly
  • BBS6 - complete absence of function of the McKusick-Kaufman syndrome (MKKS) gene on 20p12
  • BBS7 - on 4q27
  • BBS8 - mutation in a tetratricopeptide repeat protein, TTC8 on 14q32.11
  • BBS9 - mutation in parathyroid hormone-responsive gene B1 (PTHB1) on 7p14
  • BBS10 - mutation of C12ORF58 gene on 12q21.2
  • BBS11 - mutation of tripartite motif-containing protein-32 gene (TRIM32) on 9q33.1