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 journalArticle

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.

LanguageEnglish
Pages935-939
Number of pages5
JournalJournal of Human Genetics
Volume63
Issue number8
DOIs
Publication statusPublished - 01-07-2018

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Cystic Kidney Diseases
Exome
Muscle Hypotonia
Corpus Callosum
Publications
Tooth
Joubert syndrome 1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Hebbar, Malavika ; Kanthi, Anil ; Shukla, Anju ; Bielas, Stephanie ; Girisha, Katta M. / A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. In: Journal of Human Genetics. 2018 ; Vol. 63, No. 8. pp. 935-939.
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A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. / Hebbar, Malavika; Kanthi, Anil; Shukla, Anju; Bielas, Stephanie; Girisha, Katta M.

In: Journal of Human Genetics, Vol. 63, No. 8, 01.07.2018, p. 935-939.

Research output: Contribution to journalArticle

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