title: A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
abstract: Succinyl-CoA: 3-ketoacid-CoA transferase (SCOT; locus symbol OXCT, EC 2.8.3.5) deficiency is a rare genetic disorder affecting ketone body utilization in extra-hepatic tissues. A 6-bp deletion at the splice donor site of intron 1 resulted in the absence of a full-length mature SCOT mRNA with faint amounts of aberrantly spliced transcripts using a cryptic splice donor site within exon 1, which was located just 7 bases upstream from the authentic site in a SCOT deficient patient.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan. toshi-gif@umin.u-tokyo.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Satomi
authors.initials: S
authors.lastname: Sakurai
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Rolland
authors.forename: Marie-Therese
authors.initials: MT
authors.lastname: Zabot
authors.forename: Andreas
authors.initials: A
authors.lastname: Schulze
authors.forename: Keitaro
authors.initials: K
authors.lastname: Yamada
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D020029:Base Pairing; D001483:Base Sequence; D015256:Coenzyme A-Transferases / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D022821:RNA Splice Sites; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase