Novel mutation in OTC gene causes neonatal death in twin brothers

Nagy, G R; Largiadèr, C R; Nuoffer, J-M; Nagy, B; Lázár, L; Papp, Z (2007). Novel mutation in OTC gene causes neonatal death in twin brothers. Journal of perinatology, 27(2), pp. 123-4. New York, N.Y.: Nature Publishing Group 10.1038/

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Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. OTC locus is located in the short arm of X-chromosome. Authors report a case of a woman who gave birth to monozygotic male twins who later died because of severe neonatal-onset hyperammonaemic encephalopathy caused by a novel mutation of OTC gene. Post-mortem liver biopsy was taken from the second twin; afterwards, blood was drawn from the mother for examination. DNA sequence data showed that the mother was a carrier of the same novel mutation that was previously detected in the case of her son. In OTC deficiency, detection of female carriers is important for genetic counselling and eventual prenatal diagnosis.

Item Type:

Journal Article (Further Contribution)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Nuoffer, Jean-Marc






Nature Publishing Group




Factscience Import

Date Deposited:

04 Oct 2013 14:55

Last Modified:

04 May 2014 23:16

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URI: (FactScience: 41812)

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