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

Hebbar, Malavika and Kanthi, Anil and Shukla, Anju and Katta, Girisha M (2018) A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. Journal of Human Genetics, 63 (8). pp. 935-939. ISSN 1434-5161

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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.

Item Type: Article
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 22 Aug 2018 11:12
Last Modified: 22 Aug 2018 11:12
URI: http://eprints.manipal.edu/id/eprint/151829

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