Ornithine transcarbamylase deficiency is an X-linked disease with a wide range of clinical severity and manifestation age both in males and females. Here, we describe a case which is caused by a novel c.78-1G>A splice site mutation, which on mRNA level leads to a 1-bp deletion and a frameshift (c.78delG (p.C27Vfs*11)) in OTC exon 2 in a young girl. The same mutation has been detected in a mosaic state in her asymptomatic father.

中文翻译：

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一例鸟氨酸转氨甲酰酶缺乏症女性及其无症状镶嵌父亲的OTC基因新的剪接位点突变

鸟氨酸转氨甲酰酶缺乏症是一种 X 连锁疾病，在男性和女性中具有广泛的临床严重程度和表现年龄。在这里，我们描述了一个由新的 c.78-1G>A 剪接位点突变引起的案例，该突变在 mRNA 水平上导致 1-bp 缺失和移码 (c.78delG (p.C27Vfs*11))一个年轻女孩的 OTC 外显子 2。在她无症状的父亲的马赛克状态中也检测到了相同的突变。