Novel mutation in OTC gene causes neonatal death in twin brothers

G. R. Nagy, C. R. Largiadèr, J. M. Nuoffer, B. Nagy, L. Lázár, Z. Papp

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)123-124
Number of pages2
JournalJournal of Perinatology
Volume27
Issue number2
DOIs
Publication statusPublished - Feb 1 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

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