Heterozygosity for 2 novel mutations in the PK-R promoter at nt −83 (−83G>C) and nt −324 (−324T>A) in the patient and his mother.

A 469-bp fragment was amplified as described and subjected to restriction enzyme digestion. The obtained pattern for each reaction is indicated by arrows (see “Patient, materials, and methods”). Heterozygosity for both the −83G>C mutation (BsmAI digestion) and the −324T>A mutation (BstXI digestion) was confirmed in the patient (PAT) and also detected in his mother (M), whereas they were absent in the patient's father (F). P indicates uncut PCR product; and C, healthy control.