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：

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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。