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

J Genet. 2020:99:29.

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 mosaicstate in her asymptomatic father.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Exome Sequencing
  • Exons
  • Fathers
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Mosaicism
  • Mutation
  • Ornithine Carbamoyltransferase Deficiency Disease / blood
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Pedigree
  • RNA Splice Sites*
  • Transaminases / blood

Substances

  • RNA Splice Sites
  • Transaminases