title: Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.
abstract: Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that CED is a ciliopathy. In a multiplex consanguineous family with typical CED features in addition to intellectual disability and severe cutis laxa, we used autozygosity-guided candidate gene analysis to identify a novel homozygous mutation in IFT122, and demonstrated impaired ciliogenesis in patient fibroblasts. This report on IFT122 broadens the phenotype of CED and expands its allelic heterogeneity.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia.
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.affiliation: Department of Pediatrics, Security Forces Hospital Riyadh, Saudi Arabia.
authors.forename: Mohammed Zain
authors.initials: MZ
authors.lastname: Seidahmed
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia.
authors.forename: Fatema
authors.initials: F
authors.lastname: Alzahrani
authors.affiliation: Department of Pediatrics, National Guard Hospital Dammam, Saudi Arabia.
authors.forename: Adam O
authors.initials: AO
authors.lastname: Mohammed
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
keywords: Ciliopathy; craniosynostosis; intraflagellar transport