Related Experiment Video
Updated: Feb 11, 2026
Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
Published on: July 31, 2016
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
Malavika Hebbar1, Anil Kanthi1, Anju Shukla1
1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Insights
Genetic variants in PIBF1 cause Joubert syndrome. This study identifies a new PIBF1 mutation in a child with developmental delay and distinctive brain and kidney abnormalities, confirming PIBF1
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Joubert syndrome is a rare genetic disorder.
- Biallelic pathogenic variants in the PIBF1 gene are a known cause of Joubert syndrome.
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.
More Related Videos
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
05:12Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Related Concept Videos
01:24Nephrotic Syndrome I : Introduction
01:30Acute Coronary Syndrome I: Introduction
01:17Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
01:12Porin Insertion in the Outer Mitochondrial Membrane
Three models describe the assembly of porins by the SAM complex and their insertion into the outer membrane. Model 1 suggests that porins are assembled outside the SAM channel as the...
01:26Insertion of Single-pass Transmembrane Proteins in the RER
Integral transmembrane proteins possess transmembrane and extra membrane domains. The transmembrane domains are primarily made of 20-25 hydrophobic amino acids arranged in a helical secondary confirmation. These...
01:29Insertion of Multi-pass Transmembrane Proteins in the RER
The multipass transmembrane proteins are the type IV integral membrane proteins with multiple topogenic sequences determining their spatial arrangement in the ER membrane. Nearly all multipass proteins lack a cleavable signal sequence and use...