Family  member Glucose excretion (g/1.73 m2/24h) Region Nucleotide Change;Allele 1 Nucleotide Change;Allele 2 MutationState MutationType Amino Acidchange
Patient 1 5.8 Exon 12 c.1566C>A
(TGC/TGA)
Wt Heterozygous Nonsense p.C522X
Patient 2 5.2 Exon 12 c.1566C>A (TGC/TGA) Wt Heterozygous Nonsense p.C522X
Mother 2.0 Exon 12 c.1566C>A (TGC/TGA) Wt Heterozygous Nonsense p.C522X
Father 0.11 Exon 12 Wt Wt - - -
Table 2: Mutation analysis and glucose excretion in affected individuals.