RGD Reference Report - Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. - Rat Genome Database

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Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.

Authors: Oppliger Leibundgut, EO  Wermuth, B  Colombo, JP  Liechti-Gallati, S 
Citation: Oppliger Leibundgut EO, etal., Hum Mutat. 1996;8(4):333-9.
RGD ID: 1600998
Pubmed: PMID:8956038   (View Abstract at PubMed)
DOI: DOI:10.1002/(SICI)1098-1004(1996)8:4<333::AID-HUMU6>3.0.CO;2-8   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hyperammonemia  IAGP 1600998DNA:missense mutations:multiple (human)RGD 
Hyperammonemia  ISOOTC (Homo sapiens)1600998; 1600998DNA:missense mutations:multiple (human)RGD 
ornithine carbamoyltransferase deficiency  IAGP 1600998DNA:missense mutations:multiple (human)RGD 
ornithine carbamoyltransferase deficiency  ISOOTC (Homo sapiens)1600998; 1600998DNA:missense mutations:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Otc  (ornithine transcarbamylase)

Genes (Mus musculus)
Otc  (ornithine transcarbamylase)

Genes (Homo sapiens)
OTC  (ornithine transcarbamylase)


Additional Information