MUTATIONS IN THE PHOSPHORYLASE-KINASE GENE PHKA2 ARE RESPONSIBLE FOR X-LINKED LIVER-GLYCOGEN STORAGE DISEASE
MUTATIONS IN THE PHOSPHORYLASE-KINASE GENE PHKA2 ARE RESPONSIBLE FOR X-LINKED LIVER-GLYCOGEN STORAGE DISEASE
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DOI：
10.1093/hmg/4.1.77
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发表时间：
1995-01-01
影响因子：
3.5
通讯作者：
WILLEMS, PJ
中科院分区：
文献类型：
--
作者：
HENDRICKX, J;COUCKE, P;WILLEMS, PJ
磷酸化酶激酶（PHK）是糖原分解的关键酶。PHK缺乏症的几种类型已被描述，其中X连锁肝糖生成病I型（XLG I）是最常见的。由于XLG I基因座和编码PHK的肝α-亚单位基因（PHKA 2）的基因均定位于Xp 22，PHKA 2是XLG I的候选基因。在这项研究中，我们确定了四个点突变在四个无关的XLG I患者：三个突变引入一个提前终止密码子，而第四个突变废除剪接位点的共识序列，导致外显子跳跃，这些发现表明PHKA 2是XLG I基因。
Phosphorylase kinase (PHK) is a key enzyme in the control of glycogen breakdown. Several types of PHK deficiency have been described of which X-linked liver glycogenosis type I (XLG I) is the most common, Since the XLG I locus and the gene encoding the liver a-subunit gene of PHK (PHKA2) have both been localized to Xp22, PHKA2 was a candidate gene for XLG I. In this study we identified four point mutations in four unrelated XLG I patients: three mutations introduce a premature stop codon, whereas the fourth mutation abolishes a splice site consensus sequence leading to exon skipping, These findings indicate that PHKA2 is the XLG I gene.