Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
复制标题
糖原贮积病 IIIa 型德系犹太人患者的糖原脱支酶 3 编码区出现两个新突变。
DOI：
10.1023/a:1005343625756
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发表时间：
1998
影响因子：
4.2
通讯作者：
Moses,SW
中科院分区：
文献类型：
--
作者：
Parvari,R;Shen,J;Hershkovitz,E;Chen,YT;Moses,SW
糖原累积病III型（GSD III）是由糖原脱支酶（AGL）缺乏引起的常染色体隐性遗传病。我们报告发现两个新的突变GSD IIIa德系犹太人患者。这两个突变都是将一个腺嘌呤插入到编码区3′端的一段8个腺嘌呤中：一个在外显子30的3904位（3904insA），第二个在外显子32的4214位（4214insA）。这些突变导致糖原脱支酶的移码和过早终止，第一个导致在氨基酸1304处的移码，第二个导致在总共1532个氨基酸中的氨基酸1408处的移码。这些突变证明了去分支酶羧基端的125个氨基酸对其活性的重要性，并支持推定的糖原结合结构域位于AGL羧基端的建议。这些突变导致独特的单链构象多态性（SSCP）模式，使其易于检测。
Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both mutations are insertion of an adenine into a stretch of 8 adenines towards the 3′ end of the coding region: one at position 3904 (3904insA) in exon 30, the second at position 4214 (4214insA) in exon 32. The mutations cause frameshifts and premature terminations of the glycogen debranching enzyme, the first causing a frameshift at amino acid 1304, the second causing a frameshift at amino acid 1408 of the total of 1532. These mutations demonstrate the importance of the 125 amino acids at the carboxy‐terminus of the debrancher enzyme for its activity and support the suggestion that the putative glycogen binding domain is located in the carboxy‐terminus of the AGL. The mutations cause distinctive single‐strand conformation polymorphism (SSCP) patterns enabling easy detection.