尽管母亲的葡糖脑苷脂酶基因正常，但婴儿仍患2型戈谢病。
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
作者信息
Hagege Ermias, Grey Richard J, Lopez Grisel, Roshan Lal Tamanna, Sidransky Ellen, Tayebi Nahid
机构信息
Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
出版信息
Am J Med Genet A. 2017 Dec;173(12):3211-3215. doi: 10.1002/ajmg.a.38487. Epub 2017 Nov 1.
Abstract
Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) arose by either maternal germline mosaicism or as a de novo mutation. This is the first time mutation Gly202Arg has been reported to be inherited non-traditionally. This report is part of a growing literature suggesting that GD can be inherited via germline or de novo mutations, and emphasizes that it is critical for clinicians to consider such inheritance when making diagnostic decisions or providing genetic counseling.
摘要
戈谢病（GD）是一种隐性遗传的常染色体溶酶体贮积病，其中最严重的是2型，即急性神经元病变型。我们报告了一名患病婴儿，他从父亲那里遗传了一个突变等位基因Arg257Gln（c.887G>A；p.Arg296Gln），而另一个突变Gly202Arg（c.721G>A；p.Gly241Arg）则是由母系生殖腺嵌合体或新发突变产生的。这是首次报道Gly202Arg突变以非传统方式遗传。本报告是越来越多文献的一部分，这些文献表明GD可通过生殖系或新发突变遗传，并强调临床医生在做出诊断决策或提供遗传咨询时考虑这种遗传方式至关重要。
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