Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
复制标题
肌磷酸化酶基因中罕见突变的血统纯合性与患有麦卡德尔病的德鲁兹家族的可变表型相关。
DOI：
10.1136/jmg.34.5.391
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发表时间：
1997
影响因子：
4
通讯作者：
Bonne-Tamir,B
中科院分区：
文献类型：
--
作者：
Iyengar,S;Kalinsky,H;Weiss,S;Korostishevsky,M;Sadeh,M;Zhao,Y;Kidd,KK;Bonne-Tamir,B
我们研究了一个大的德鲁兹家族与麦卡德尔病的糖原肌磷酸化酶（PYGM）基因突变。所有受影响的受试者都是单个G到A转换的纯合子，该转换消除了内含子14的第一个核苷酸中的5'共有剪接位点。G到A的转换是一种罕见的突变，只有一个以前的报告，在一个单一的白色受试者杂合子为这种突变和另一个，更常见的，突变密码子49。在我们的研究中的亲属是第一个家庭报告的疾病是由这种罕见的突变纯合性。这个家族最初被报道为德鲁兹人的第一例McArdle病家族病例。
We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene. All affected subjects were autozygous for a single G to A transition that abolishes the 5' consensus splice site in the first nucleotide of intron 14. The G to A transition is a rare mutation, with only one previous report in a single white subject heterozygous for this mutation and another, more common, mutation at codon 49. The kindred in our study is the first family reported in which disease is caused by homozygosity for this rare mutation. This kindred was originally reported as the first familial case of McArdle disease in the Druze.