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

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Abstract

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.

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Acknowledgement

This research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation.

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Authors and Affiliations

  1. Research Centre for Medical Genetics, Moscow, 115522, Russia

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

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  1. Shchagina Olga
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  2. Semenova Natalia
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  3. Bychkov Igor
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  4. Chukhrova Alena
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  5. Zakharova Ekaterina
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  6. Ryzhkova Oksana
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  7. Markova Zhanna
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  8. Shilova Nadezhda
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  9. Poliakov Aleksander
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Corresponding author

Correspondence to Shchagina Olga.

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Corresponding editor: Indrajit Nanda

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Olga, S., Natalia, S., Igor, B. et al. A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father. J Genet 99, 29 (2020). https://doi.org/10.1007/s12041-020-1189-8

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  • DOI: https://doi.org/10.1007/s12041-020-1189-8

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