LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

• Published in: PloS one Vol. 8; no. 3; p. e59436
• Main Authors: Horani, Amjad, Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Oren, Yifat S., Kerem, Batsheva, Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Brody, Steven L., Elpeleg, Orly, Kerem, Eitan
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 19.03.2013; Public Library of Science (PLoS)
• Subjects: Acids; Adolescent; Adult; Amino Acid Sequence; Amino acids; Analysis; Analysis of Variance; Arabs - genetics; Aspartate; Aspartic acid; Autosomal recessive inheritance; Base Sequence; Biology; Children; Chromosome 8; Chromosomes, Human, Pair 8 - genetics; Cilia; Cilia beat frequency; Cytoplasm; Cytoskeletal Proteins; Defects; Dynein; Dyneins - genetics; Dyneins - metabolism; Dyskinesia; Epithelial cells; Female; Gene Expression Regulation, Developmental - physiology; Gene Silencing; Genes, Recessive; Genetic aspects; Genetic Linkage; Genetic research; Genetics; HEK293 Cells; Histidine; Humans; Insects; Kartagener Syndrome - genetics; Kartagener Syndrome - pathology; Leucine; Male; Medicine; Microscopy, Electron; Microscopy, Video; Molecular Sequence Data; Motility; Movement disorders; Mutation; Nasal Mucosa - cytology; Nasal Mucosa - metabolism; Nitric oxide; Oligonucleotides - genetics; Pediatrics; Pedigree; Primary ciliary dyskinesia; Proteins; Proteins - genetics; Respiratory tract; Reverse Transcriptase Polymerase Chain Reaction; RNA, Small Interfering - genetics; Sequence Analysis, DNA; Transplants & implants; Trypanosoma brucei; Zebrafish; Israel; Jerusalem Israel; United States > US; Missouri

Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrati...