Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Gabriella EspositoFrancesco TestaMiriam ZacchiaAnna Alessia CrispoValentina Di IorioGiovanna CapolongoLuca RinaldiMarcella D'AntonioTiziana FiorettiPasquale IadiciccoSettimio RossiAnnamaria FranzèElio MarcianoGiovanbattista CapassoFrancesca SimonelliFrancesco Salvatore

Published in: BMC medical genetics (2017)

BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients. BBS10 was associated with the worse outcome in terms of the renal, ocular and audiovestibular phenotypes. Cochlear dysfunction should be included among the hallmarks of BBS.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
oxidative stress
prognostic factors
peritoneal dialysis
gene expression
patient reported outcomes
case report