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Database: PubMed
Entry: 8956038
LinkDB: 8956038
Original site: 8956038 
PMID:
     8956038
Authors:
     Oppliger Leibundgut EO, Wermuth B, Colombo JP, Liechti-Gallati S.
Title:
     Ornithine transcarbamylase deficiency: characterization of gene mutations and
     polymorphisms.
Journal:
     Hum Mutat. 1996;8(4):333-9. doi:
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.

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