OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis

Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. It may occur due to various changes to the OTC gene located on the X chromosome. Many sequence variants in the OTC gene result in different severity and require different types of molecular testing. We present a fami...

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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2024-12, Vol.41, p.101146, Article 101146
Main Authors: Natalia, Borkowska, Lukasz, Kaluzny, Dariusz, Rokicki, Elzbieta, Szmida, Pawel, Kowalski, Monika, Dus-Zuchowska, Pawel, Skiba, Elzbieta, Ciara, Mateusz, Biela, Malgorzata, Rydzanicz, Rafal, Ploski, Robert, Smigiel
Format: Article
Language:English
Subjects:
Duplication
Hyperammonaemia
OTC deficiency
OTC gene
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Summary:Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. It may occur due to various changes to the OTC gene located on the X chromosome. Many sequence variants in the OTC gene result in different severity and require different types of molecular testing. We present a familial case of hyperammonemia possibly caused by the small CNV (duplication) within exon 2 of the OTC gene that was not detected by standard sequencing methods. In this case, the knowledge of the underlying molecular changes to the gene results in an appropriate approach to future sibling screening. Collecting more data, especially regarding rare variants of genetic disorders, is essential as it will help to create the best diagnostic-therapeutic path in prenatal and neonatal care in the future. Early diagnosis and treatment can lead to a better prognosis, and this case emphasizes the importance of understanding genetic changes in OTC deficiency.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2024.101146