4 Matching Annotations
  1. Jul 2024
    1. Case: Patient #15, male, Korean

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572

      CaseHPOFreeText: Neonatal onset, hyperammonemia, oroticaciduria, low plasma citrulline

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.

      Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.

      Variant: NM_000531.6:c.796_805del(p.Ile265_Gly268delinsAspfs*19)

      ClinVarID: N/A

      CAID:CA2695233326

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    2. Case: Patient #45, female, Korean

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: variant in mother (father not tested) and brother

      CasePresentingHPOs: HP:0003593, HP:0001987, HP:0003218

      CaseHPOFreeText: infantile onset, hyperammonemia, oroticaciduria

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.

      Supplemental Data: Table 1, mother is a carrier, the mutation was also found in patient 13(her brother), no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.

      Variant: NM_000531.6c.664_667delinsAC(p.Gly222Thrfs*2)

      ClinVarID: N/A

      CAID:CA2695233319

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    3. Case: Patient #42, female, Korean

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218

      CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.

      Supplemental Data: Table 1, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.

      Variant: NM_000531.6:c.958C>T(p.Arg320*)

      ClinVarID: 97371

      CAID:CA285809

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    4. Case: Patient #44, female, Korean

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: variant in mother (father not tested)

      CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003217

      CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria, hyperglutaminemia

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.

      Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.

      Variant: NM_000531.6:c.799_800insA (p.Ser267Lysfs*26)

      ClinVarID: N/A

      CAID:CA2695233327

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)