9 Matching Annotations
  1. Aug 2024
    1. Case: Patient #38, Female, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: No family history of disease, mutation is inherited

      CasePresentingHPOs: Hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), vomiting (HP:0002013), coma (HP:0001259), lethargy (HP:0001254), seizures (HP:0001250), childhood onset (HP:0011463)

      CaseHPOFreeText: Elevated plasma ammonia at 190 umol/L (Normal: 9-30 umol/L), Elevated urinary orotate at 202 mmol/mmol creatinine (Normal: 0-1.5 mmol/mmol creatinine)

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Normal plasma glutamine at 13.5 umol/L (Normal: 6-30 umol/L), Normal plasma citrulline at 15.75 umol/L (Normal: 7-35 umol/L)

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      Variant: NM_000531.6:c.67C>T (p.Arg23*)

      ClinVarID: 97292

      CAID: CA224742

      gnomAD:

  2. Jul 2024
    1. Case: Patient #30, male, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: no family history of the disease

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

      CaseHPOFreeText: infantile onset, hyperammonemia, oroticaciduria

      CaseNOTHPOs:

      CaseNOTHPOFreeText: No neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)

      Variant: NM_000531.6:c.929_931del(p.Glu310Valfs*45)

      ClinVarID: 858012

      CAID:CA916083888

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    2. Case: Patient #61, female, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo:

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

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

      CaseNOTHPOs:

      CaseNOTHPOFreeText: neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)

      Variant: NM_000531.6:c.868-1G>C

      ClinVarID: N/A

      CAID:CA412725475

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    3. Case: Patient #52, female, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: family history of the disease, variant in probands mother and father

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

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

      CaseNOTHPOs:

      CaseNOTHPOFreeText: neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration

      Variant: NM_000531.6:c.703C>T

      ClinVarID: N/A

      CAID: CA412721652

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    4. Case: Patient #20, male, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo:

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

      CaseHPOFreeText: childhood onset, hyperammonemia, oroticaciduria

      CaseNOTHPOs:

      CaseNOTHPOFreeText: No neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, drug treatment (L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), deceased

      Variant: NM_000531.6:c.794G>A(p.Trp265*)

      ClinVarID: N/A

      CAID:CA412722994

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    5. Case: Patient #60, female, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: family history of the disease

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

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

      CaseNOTHPOs:

      CaseNOTHPOFreeText: neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration

      Variant: NM_000531.6:c.718-1G>A

      ClinVarID: N/A

      CAID: CA412722112

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    6. Case: Patient #58, female, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: variant pin proband's mother and father CasePresentingHPOs: HP:0003593, HP:0002038, HP:0001987, HP:0003218, HP:0003572

      CaseHPOFreeText: infantile onset , protein avoidance, hyperammonemia, oroticaciduria, low plasma citrulline

      CaseNOTHPOs: N/A

      CaseNOTHPOFreeText: neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purifed and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplifcation analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, low protein diet treatment and drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), neurological damage

      Variant: NM_000531.6:c.540+265G>A

      ClinVarID: 449382

      CAID: CA658658977

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    7. Case: Patient #3, male, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: Family history of the disease, variant in probands mother and father

      CasePresentingHPOs: HP:0003623, HP:0001987, HP:0003218

      CaseHPOFreeText: neonatal, hyperammonemia , oroticaciduria

      CaseNOTHPOs: N/A

      CaseNOTHPOFreeText: No neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, no therapy received, mutation inherited, family history, deceased

      Variant: NM_000531.6:c.579G>A

      ClinVarID: N/A

      CAID: CA412725369

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)

    8. Case: Patient #59, female, Chinese

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: variant in proband's mother and father

      CasePresentingHPOs: HP:0003621, HP:0001987, HP:0003218, HP:0003217

      CaseHPOFreeText:juvenile onset, hyperammonemia , oroticaciduria, hyperglutaminemia

      CaseNOTHPOs: N/A

      CaseNOTHPOFreeText: No neurological damage

      CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.

      SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)

      Variant: NM_000531.6:c.664-1G>A

      ClinVarID: 97288

      CAID: CA224737

      gnomAD:

      GeneName: OTC (ornithine transcarbamylase)