1 Matching Annotations
  1. Jul 2024
    1. 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)