title: Novel mutation in OTC gene causes neonatal death in twin brothers.
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.
authors.affiliation: Faculty of Medicine, 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. nagygyr@noi1.sote.hu
authors.forename: G R
authors.initials: GR
authors.lastname: Nagy
authors.forename: C R
authors.initials: CR
authors.lastname: Largiadèr
authors.forename: J-M
authors.initials: JM
authors.lastname: Nuoffer
authors.forename: B
authors.initials: B
authors.lastname: Nagy
authors.forename: L
authors.initials: L
authors.lastname: Lázár
authors.forename: Z
authors.initials: Z
authors.lastname: Papp
mesh_terms: D000328:Adult; D004200:Diseases in Twins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000235:genetics; D020125:Mutation, Missense; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000235:genetics*