A case of bardet-biedl syndrome caused by a recurrent variant in bbs12: A case report

Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu, Sheraz Khan, Azita Sadeghpour, Laurențiu C. Bohîlțea, Erica E. Davis*, Mihaela Bălgrădean

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ systems. The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impair-ment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy. Of these causal loci, BBS12 accounts for ~8% of all cases. In this case report, an individual with BBS caused by a rare recurrent variant in BBS12 (NM_152618.3: c.1063C>T; p.Arg355*) is described and compared with others with the same DNA variant, placing this finding in the context of the current literature.

Original languageEnglish (US)
Article number103
JournalMolecular and Clinical Oncology
Volume15
Issue number6
DOIs
StatePublished - Dec 2021

Keywords

  • Bardet-Biedl syndrome
  • Chaperonin
  • Cilia
  • Ciliopathies
  • Oligogenic
  • Pleiotropy

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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