女性中的亨特综合征：是否存在艾杜糖醛酸硫酸酯酶缺乏的常染色体隐性形式？
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
作者信息
Neufeld E F, Liebaers I, Epstein C J, Yatziv S, Milunsky A, Migeon B R
出版信息
Am J Hum Genet. 1977 Sep;29(5):455-61.
Abstract
Profound iduronate sulfatase deficiency, characteristic of the Hunter syndrome, has been found in cultured fibroblasts, serum, lymphocytes, and tissues of two clinically affected girls. The patients are karyotypically normal and have normal fathers; cloning of the mothers' fibroblasts did not reveal the mosaicism expected of carriers of an X-linked disease. Homozygosity for a previously unsuspected autosomal recessive gene for iduronate sulfatase is considered the most likely explanation, although heterozygosity for the X-linked gene and subsequent selection cannot be completely excluded.
摘要
在两名临床确诊的患病女童的培养成纤维细胞、血清、淋巴细胞及组织中，发现了严重的艾杜糖醛酸硫酸酯酶缺乏，这是亨特综合征的特征。患者的染色体核型正常，父亲也正常；对母亲的成纤维细胞进行克隆并未发现X连锁疾病携带者预期的嵌合体现象。最有可能的解释是，存在一种先前未被怀疑的艾杜糖醛酸硫酸酯酶常染色体隐性基因的纯合性，不过也不能完全排除X连锁基因杂合性及后续选择的可能性。
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The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.亨特综合征的缺陷：艾杜糖醛酸-2-硫酸酯酶缺乏。
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Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts.黏多糖贮积症Ⅰ型和Ⅱ型：培养成纤维细胞中缺陷的相互校正。
Science. 1968 Nov 1;162(3853):570-2. doi: 10.1126/science.162.3853.570.
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