title: X-Linked Candidate Genes for a Ciliopathy-Like Disorder.
abstract: The ability to interrogate the genome via chromosomal microarray and sequencing-based technologies has accelerated the ability to rapidly and accurately define etiologies as well as new candidate genes related to genetic conditions. We describe a male patient with a lethal presentation of a multiple congenital anomaly syndrome that appeared consistent with a ciliopathy phenotype. The patient was found to have a novel maternally inherited 1.9-Mb X chromosome deletion including 4 known genes. Presently, the biological functions of these genes are not well delineated. However, at least one of these genes may be a promising candidate gene for this pattern of anomalies based on the function of related genes and information from publicly available copy number variant databases of control and affected individuals. These genes would bear further scrutiny in larger cohorts of patients with similar phenotypes.
authors.affiliation: Department of Pediatrics, Walter Reed National Military Medical Center, Washington, D.C., USA; Department of Pediatrics, Uniformed Services University of Health Sciences, Bethesda, Md., Washington, D.C., USA; Division of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA.
authors.forename: Ashleigh R
authors.initials: AR
authors.lastname: Pavey
authors.affiliation: Division of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA.
authors.forename: Thierry
authors.initials: T
authors.lastname: Vilboux
authors.affiliation: Department of Pediatrics, Children's National Medical Center, Washington, D.C., USA; Division of Genetics and Metabolism, Children's National Medical Center, Washington, D.C., USA.
authors.forename: Holly E
authors.initials: HE
authors.lastname: Babcock
authors.affiliation: Fairfax Neonatal Associates, Inova Children's Hospital, Inova Health System, Falls Church, Va., Washington, D.C., USA.
authors.forename: Margot
authors.initials: M
authors.lastname: Ahronovich
authors.affiliation: Division of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA; Department of Pediatrics, Children's National Medical Center, Washington, D.C., USA; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Va., Washington, D.C., USA.
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
keywords: Chromosomal microarray; Ciliopathy; Deletion; Multiple congenital anomalies; X-linked inheritance