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.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Alleles*
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Base Pairing / genetics*
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Base Sequence
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Cerebellum / abnormalities*
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Cerebellum / diagnostic imaging
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Child, Preschool
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Eye Abnormalities / diagnostic imaging
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Eye Abnormalities / genetics*
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Female
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Humans
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Kidney Diseases, Cystic / diagnostic imaging
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Kidney Diseases, Cystic / genetics*
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Magnetic Resonance Imaging
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Male
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Mutagenesis, Insertional / genetics*
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Mutation / genetics
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Pedigree
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Pregnancy Proteins / genetics*
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Retina / abnormalities*
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Retina / diagnostic imaging
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Suppressor Factors, Immunologic / genetics*
Substances
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PIBF1 protein, human
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Pregnancy Proteins
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Suppressor Factors, Immunologic
Supplementary concepts
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Agenesis of Cerebellar Vermis