Article
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
American journal of medical genetics. Part A - 1 Apr 2021
Strong Alanna, Li Dong, Mentch Frank, Hakonarson Hakon
Abstract excerpt
TTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated with classic ciliopathy syndromes, including nephronophthisis, Jeune asphyxiating thoracic dystrophy, and Joubert Syndrome, wi...
Topics
- Abnormalities, Multiple
- Cerebellum
- Child
- Ciliary Motility Disorders
- Eye Abnormalities
- Genetic Predisposition to Disease
- Glomerulosclerosis, Focal Segmental
- Heterotaxy Syndrome
- Humans
- Kidney
- Kidney Diseases, Cystic
- Kidney Transplantation
- Male
- Microtubule-Associated Proteins
- Retina
- Exome Sequencing