Figure 1.

Pedigrees, mutations, and genetic location of 6 families with DGAT1 deficiency. (A) Pedigrees of families with DGAT1 deficiency and chromatograms showing mutation in affected patients. Filled shapes indicate affected individuals, half-filled are heterozygous for mutation indicated, and empty shapes indicate WT. (B) Exonic scheme of DGAT1 showing mutations identified in this study in black and previously identified mutations in red.^{3, 4, 5, 6}