A 6-by 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

被引：17

作者：

Fukao, Toshiyuki ^{[1
]}

Sakurai, Satomi

Rolland, Marie-Odile

Zabot, Marie-Therese

Schulze, Andreas

Yamada, Keitaro

Kondo, Naomi

机构：

[1] Gifu Univ, Grad Sch Med, Dept Pediat, Gifu 5011194, Japan

[2] Hop Debrousse, Serv Biochim Pediat, F-69322 Lyon 05, France

[3] Hop Debrousse, Ctr Biotechnol Cellulaire, F-69322 Lyon 05, France

[4] Univ Heidelberg, Dept Pediat, D-6900 Heidelberg, Germany

来源：

MOLECULAR GENETICS AND METABOLISM | 2006年 / 89卷 / 03期

关键词：

succinyl-CoA : 3-ketoacid CoA transferase; ketone body metabolism; mutation; splic donor site; aberrant splicing; cryptic splice site;

D O I：

10.1016/j.ymgme.2006.04.014

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (c) 2006 Elsevier Inc. All rights reserved.

引用

页码：280 / 282

页数：3

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