Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y M Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren, Petter Strømme, Eirik Frengen
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 genetic diagnosis to the patients. Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine...
October 24, 2023: Genes