- Jul 2024
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Case: patient #113, Male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Neonatal onset(HP:0003623), Hyperammonemia HP:0001987
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA from blood, cultured skin fibroblasts, liver from patients suspected for otc deficiency was used to amplify all 10 exons and exon/intron boundaries using primers listed in Table 1. The amplified DNA fragments were then screened by single-strand conformational polymorphism (SSCP) and the abnormally migrating DNA fragments were sequenced directly from PCR products (w/o subcloning) to identify the mutation. The amino acid residue substitution created by the mutation is examined using an alignment of 26 OTCase sequences from 23 species.
Supplemental Data: Table 4 Notes:
Variant: NM_000531.6: c.867+1G>A
ClinVarID: 97342
CAID: CA224813
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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