Related Experiment Video
Updated: Jun 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical
Camille Bergès1, Clément Sauvestre1, Sophie Naudion1
1Service de génétique médicale, CHU Bordeaux, MRGM-U1211, INSERM/Université de Bordeaux, Bordeaux, France.
None:
Pseudouridylation is a frequent post-transcriptional modification resulting in uridine isomerization in 5-ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base-stacking and the creation of hydrogen bonds. Recently, papers reported that variants in PUS7 in 16 patients were involved in marked growth retardation with microcephaly, associated with intellectual disability and behavioral issues such as self-injurious and aggressive behavior. Through Genematcher, we initiated a collaboration to describe a new cohort of PUS7 patients. In total, we report 13 new cases carrying 15 new variants. This cohort further expands the phenotypic spectrum associated with PUS7-related syndromes, allowing for improved genotype-phenotype correlations and ultimately better healthcare for affected individuals and their families.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Related Concept Videos
Pleiotropy
Single Nucleotide Polymorphisms-SNPs
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Sex-linked Disorders
Incomplete Dominance
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...