Figure 3.

Mutations in the OTC gene in the two families. Pedigrees of the two families show the affected (solid), unaffected (open), and asymptomatic carrier (circle with dot) members. Squares, males; circles, females; slashed symbol, deceased. The genotype is shown underneath each symbol; WT, wild-type. (A) Patient 1 and her mother carried a novel heterozygous missense mutation, c.365A>T (p.Glu122Val), in exon 4. Multiple-sequence alignment of the amino acid sequences of OTC from different species revealed a complete conservation of the p.Glu122 residue across species (red box). (B) Identification of a mutation, IVS7+1G>A, in the OTC gene in the family of patient 2. The results showed a maternal carrier, while the father and sister were normal. The GenBank reference sequences of the human OTC gene are NM_000531.6 for the mRNA sequence and NC_000023.11 for the exon-intron boundary.