Figure 2.

Pedigree for patient 2 shown with genomic DNA sequences in exons 4 and 7 of the aldo-keto reductase 1D1 gene in patient 2 and his parents. The arrow in exon 4 identified C/A in patient 2s and his father, but C in his mother. The arrow in exon 7 identified A/T in patient 2 and his mother, but T in his father. These represent compound heterozygote with c.396C>A (nonsene mutation) from his father and c.722A>T (p.D241V) from his mother.