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Article

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

Journal of human genetics - 1 Jul 2018

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

Abstract excerpt

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...

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Identifiers

PMID: 29695797
DOI: 10.1038/s10038-018-0462-7
PMCID: PMC6060014

Genes

PIBF1

Provenance

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