Article
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
Genes - 20 Oct 2021
Siegert Sandy, Mindler Gabriel T, Brücke Christof, Kranzl Andreas, Patsch Janina, Ritter Markus, Janecke Andreas R, Vodopiutz Julia
Abstract excerpt
Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Cerebellum
- Ciliopathies
- Consanguinity
- Cytoskeletal Proteins
- Duane Retraction Syndrome
- Eye Abnormalities
- Female
- Humans
- Kidney Diseases, Cystic
- Male
- Nervous System Malformations
- Phenotype