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.
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.
Fukao
Toshiyuki
T
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan. toshi-gif@umin.u-tokyo.ac.jp
Sakurai
Satomi
S
Rolland
Marie-Odile
MO
Zabot
Marie-Therese
MT
Schulze
Andreas
A
Yamada
Keitaro
K
Kondo
Naomi
N
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
D022821:RNA Splice Sites; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase