Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

• Published in: Human genetics Vol. 113; no. 3; pp. 268 - 275
• Main Authors: VAN DEN HURK, José A. J. M, VAN DE POL, Dorien J. R, ROPERS, Hans-Hilger, CREMERS, Frans P. M, WISSINGER, Bernd, VAN DRIEL, Marc A, HOEFSLOOT, Lies H, DE WIJS, Ilse J, VAN DEN BORN, L. Ingeborgh, HECKENLIVELY, John R, BRUNNER, Han G, ZRENNER, Eberhart
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.08.2003; Berlin Springer Nature B.V; New York, NY
• Subjects: Adaptor Proteins, Signal Transducing; Alkyl and Aryl Transferases; Amino Acid Sequence; Base Sequence; Biological and medical sciences; CHM gene; Choroideremia; Choroideremia - genetics; Codon, Nonsense; DNA; DNA Mutational Analysis; Errors of metabolism; Exons; G proteins; Gene Deletion; Genes; Genetic aspects; Genetic research; Genetic transcription; Humans; Introns; Male; Medical sciences; Messenger RNA; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Molecular Sequence Data; Mutagenesis, Insertional; Mutation; Ophthalmology; Protein Splicing; Proteins; Rab escort protein; rab GTP-Binding Proteins - genetics; rab protein; Retinopathies; Reverse Transcriptase Polymerase Chain Reaction; Exon; Gene; Length; Choroideremia; Insertion mutation

Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is involved in the posttranslational lipid modification and subsequent membrane targeting of Rab proteins, sm...