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