A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

Olga Shchagina; Natalia Semenova; Igor Bychkov; Alena Chukhrova; Ekaterina Zakharova; Oksana Ryzhkova; Zhanna Markova; Nadezhda Shilova; Aleksander Poliakov

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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

机译：用鸟氨酸转基氨基甲酰胺缺乏的女性OTC基因的一种新型剪接位点突变及其无症状的镶嵌父亲

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摘要

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.

机译：鸟氨酸转氨酶缺乏症是一种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，我们描述了一个由一个新的c.78-1G>a剪接位点突变引起的病例，该突变在mRNA水平上导致一名年轻女孩OTC外显子2的1-bp缺失和移码（c.78delG（p.C27Vfs*11））。在她无症状的父亲身上，在镶嵌状态下检测到了相同的突变。

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来源
《Journal of genetics》 |2020年第1期|共5页
作者
Olga Shchagina; Natalia Semenova; Igor Bychkov; Alena Chukhrova; Ekaterina Zakharova; Oksana Ryzhkova; Zhanna Markova; Nadezhda Shilova; Aleksander Poliakov;
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作者单位

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

Res Ctr Med Genet Moscow 115522 Russia;

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正文语种 eng
中图分类遗传学;
关键词
ornithine transcarbamylase deficiency; splice site; minigene assay; mosaic;

机译：鸟氨酸转琥珀酰胺缺乏;剪接部位;小烯测定;马赛克;

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1. A novel splice site mutation of CRYBA3/A 1 gene associated with congenital cataract in a Chinese family [J] . Meng-Han Wu12, Yin-Hui Yu12, Qin-Long Hao3, 国际眼科杂志：英文版 . 2017,第001期
2. The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX [J] . Xiang Chen, Meng-Jia Tang, Shan Wan, 中华医学杂志（英文版） . 2019,第019期
3. Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure [J] . Jin He, Han Lin, Jin-Jing Li, 中华医学杂志（英文版） . 2018,第013期
4. IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family [J] . Mei-Na Li-Yang, Xiao-Fei Shen, Qin-Jun Wei, 中华医学杂志（英文版） . 2015,第018期
5. A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father [J] . SHCHAGINA OLGA, SEMENOVA NATALIA, BYCHKOV IGOR, Journal of genetics . 2020,第2期

机译：用鸟氨酸转基氨基甲酶缺乏的雌性OTC基因的一种新型剪接位点突变及其无症状的镶嵌父亲
6. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. [J] . Climent Consuelo, Rubio Vicente Human mutation . 2002,第2期

机译：鉴定OTC缺乏症患者鸟氨酸转氨甲酰酶（OTC）基因中的七个新的错义突变，两个剪接位点突变，两个微缺失和一个多态性氨基酸替代。
7. Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation [J] . WAKAKO OGINO, YASUHIRO TAKESHIMA, ATSUSHI NISHIYAMA, Kobe journal of medical sciences . 2007,第5期

机译：五个日本OTC缺乏症患者中鸟氨酸转氨甲酰酶（OTC）基因的突变分析揭示了两个已知的和三个新的突变，包括深内含子突变
8. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

机译：具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
9. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
10. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency [O] . Sitao Li, Yao Cai, Congcong Shi, 1923

机译：两个鸟氨酸转氨甲酰酶缺乏症家庭的鸟氨酸转氨甲酰酶（OTC）基因的基因突变分析和产前诊断
11. Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation [O] . Ogino Wakako, Takeshima Yasuhiro, Nishiyama Atsushi, 2007

机译：五个日本OTC缺乏症患者中鸟氨酸转氨甲酰酶（OTC）基因的突变分析揭示了两个已知的和三个新的突变，包括深内含子突变
12. Identification of a polymorphic site as a mutational site in exon VI of the mouse p53 gene [R] . Paunesku, T., Gemmell, M. A., Crkvenjakov, R., 1993

机译：鉴定多态性位点作为小鼠p53基因的外显子VI中的突变位点

A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

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