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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father
Journal of Genetics ( IF 1.4 ) Pub Date : 2020-04-10 , DOI: 10.1007/s12041-020-1189-8
Shchagina Olga , Semenova Natalia , Bychkov Igor , Chukhrova Alena , Zakharova Ekaterina , Ryzhkova Oksana , Markova Zhanna , Shilova Nadezhda , Poliakov Aleksander

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:

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。
更新日期:2020-04-10
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