A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M. Girisha

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome.

Original languageEnglish
Pages (from-to)935-939
Number of pages5
JournalJournal of Human Genetics
Volume63
Issue number8
DOIs
Publication statusPublished - 01-07-2018

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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