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)