Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms

Human Mutation
E Oppliger LeibundgutS Liechti-Gallati

Abstract

We identified three new and three known mutations in male patients with OTC deficiency using PCR amplification of all the individual exons, including the adjacent intron sequences, followed by direct sequencing of the amplimers. Two mutations were found in males presenting with neonatal fatal hyperammonemia and no detectable enzyme activity in their livers. The H302Y mutation found in one patient affects the putative binding site for ornithine. The second patient had an R141X mutation, which is one of the few recurrent mutations in the OTC gene. Four different missense mutations were identified in male patients with late onset of the disease and residual OTC activities between 14% and 35%. The mutations are Y176C and P220A and the known mutations K88N and T343K, respectively. Four of the patients' mothers were identified as carriers. In two cases, the mutations had occurred spontaneously. In addition, the frequency of four polymorphisms of the OTC gene was studied. The K46R polymorphism in exon 2 and the Q27OR polymorphism in exon 8 were found in 36% and 4% of screened alleles, respectively. Two questionable polymorphisms in exon 4, F101L and L111P, were not present in any of the screened alleles.

References

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Citations

Jun 6, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Neil Gordon
May 9, 2000·Archives of Disease in Childhood·R E Schultz, M K Salo
Jan 17, 2002·Human Mutation·Mendel TuchmanMichael G Lynch
Jun 21, 2006·Human Mutation·Saori YamaguchiMendel Tuchman
May 14, 2017·The Journal of Immunology : Official Journal of the American Association of Immunologists·Scott N AshleyJames M Wilson

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