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Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.
Human Genome Variation ( IF 1.0 ) Pub Date : 2016-10-22 , DOI: 10.1038/hgv.2016.31
Catherine Breen 1 , Jean Mercer 1 , Simon A Jones 1 , Amir Jahic 2 , Lesley Heptinstall 1 , Karen Tylee 1 , William G Newman 1 , Christian Beetz 2
Affiliation  

Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in IDUA, encoding alpha-l iduronidase. Here, we describe an individual affected by MPS I due to a paternally inherited deletion of IDUA exons 1 and 2, c.(?_-88)_(299+1_300-1)del and a whole-gene deletion of IDUA (?_-88?)_(*136?)del secondary to maternal somatic mosaicism. We define a previously unreported mutational mechanism for this disorder.

中文翻译:

删除IDUA的孕产妇镶嵌术明确了MPS I的复发风险。

粘多糖贮积病I(MPS I)是一种罕见的常染色体隐性多系统溶酶体贮积病。它是由IDUA中的双等位基因功能缺失变体引起的,该变体编码α-1艾杜糖醛酸酶。在这里,我们描述了由于IDUA外显子1和2的父系遗传删除而受MPS I影响的个体,即c?(?_- 88)_(299 + 1_300-1)del和IDUA(? _-88?)_(* 136?)继母体细胞镶嵌症。我们为该疾病定义了一个以前未报道的突变机制。
更新日期:2019-11-01
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