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- Title
EP18.48: A novel splicing variant of CC2D2A gene causes Joubert syndrome.
- Authors
Yan, Y.; Liu, Y.; Chen, Y.; Sun, Y.
- Abstract
This article discusses a case study of a 4-year-old girl with Joubert syndrome, a rare genetic disorder characterized by various symptoms including developmental delays and abnormal ocular movements. The study used whole-exome sequencing to identify two variants in the CC2D2A gene, which is known to be associated with Joubert syndrome. Further analysis and experiments confirmed that one of the variants, c.439-5T>G, caused abnormal mRNA splicing and degradation. Based on these findings, the variant was classified as pathogenic. The study also suggests that another variant, c.4732 G>A, may also be potentially pathogenic.
- Subjects
JOUBERT syndrome; INTELLECTUAL disabilities; EYE movements; GENETIC variation; DEVELOPMENTAL delay
- Publication
Ultrasound in Obstetrics & Gynecology, 2024, Vol 64, p294
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.28783