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)

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)

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)

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)