Article
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
Genes - 24 Oct 2023
Misceo Doriana, Senaratne Lokuliyanage Dona Samudita, Mero Inger-Lise, Sundaram Arvind Y M, Bjørnstad Pål Marius, Szczałuba Krzysztof, Gasperowicz Piotr, Kamien Benjamin, Nedregaard Bård, Holmgren Asbjørn, Strømme Petter, Frengen Eirik
Abstract excerpt
Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in CENPF, including one structural variant, giving a...
Topics
- Male
- Intestinal Atresia
- Anterior Eye Segment
- Female
- Mutation
- Humans
- Eye Abnormalities
- Infant
- Child
- Microcephaly