Bardet-Biedl 9 Syndrome, A Rare Mutation

Iran J Kidney Dis. 2020 Mar;14(2):157-159.

Abstract

Bardet- biedl syndrome (BBS) is a rare heterogenous autosomal recessive disease due to defects in primary cilia which until now, up to 21 types have been detected. A few reports of BBS in Iran have been published but this is the first type 9 genotyped and clinically discussed case. This type can cause severe and delayed onset renal failure.

Publication types

  • Case Reports

MeSH terms

  • Bardet-Biedl Syndrome / complications
  • Bardet-Biedl Syndrome / diagnosis*
  • Bardet-Biedl Syndrome / genetics*
  • Cilia / pathology
  • Cytoskeletal Proteins / genetics*
  • Fingers / abnormalities
  • Fingers / diagnostic imaging
  • Genotype
  • Humans
  • Hyperparathyroidism / etiology
  • Hypogonadism / etiology
  • Iran
  • Kidney / abnormalities
  • Male
  • Middle Aged
  • Mutation*
  • Polydactyly / etiology
  • Uremia / etiology

Substances

  • BBS9 protein, human
  • Cytoskeletal Proteins

Supplementary concepts

  • Bardet-Biedl Syndrome 9