Katta Mohan Girisha and colleagues conduct a whole exome sequencing on a child with a clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). They identified a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the likely cause of the children’s condition. This is the first report of a human disease associated with IFT52.
Girisha, Katta Mohan et al. Clinical Genetics.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway