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

Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-years-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign and thinning of corpus callosum. A novel homozygo...

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Autores principales: Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060014/
https://www.ncbi.nlm.nih.gov/pubmed/29695797
http://dx.doi.org/10.1038/s10038-018-0462-7
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author Hebbar, Malavika
Kanthi, Anil
Shukla, Anju
Bielas, Stephanie
Girisha, Katta M
author_facet Hebbar, Malavika
Kanthi, Anil
Shukla, Anju
Bielas, Stephanie
Girisha, Katta M
author_sort Hebbar, Malavika
collection PubMed
description Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-years-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.
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spelling pubmed-60600142018-10-25 A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome Hebbar, Malavika Kanthi, Anil Shukla, Anju Bielas, Stephanie Girisha, Katta M J Hum Genet Article Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-years-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. 2018-04-25 2018-07 /pmc/articles/PMC6060014/ /pubmed/29695797 http://dx.doi.org/10.1038/s10038-018-0462-7 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Hebbar, Malavika
Kanthi, Anil
Shukla, Anju
Bielas, Stephanie
Girisha, Katta M
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
title A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
title_full A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
title_fullStr A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
title_full_unstemmed A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
title_short A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
title_sort biallelic 36-bp insertion in pibf1 is associated with joubert syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060014/
https://www.ncbi.nlm.nih.gov/pubmed/29695797
http://dx.doi.org/10.1038/s10038-018-0462-7
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