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)