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. Author manuscript; available in PMC: 2015 Mar 17.
Published in final edited form as: Diabetes. 2014 Aug 11;64(1):299–310. doi: 10.2337/db14-0104

Figure 1. A heterozygous PLIN1 439fs mutation co-segregates with insulin-resistant diabetes, dyslipidemia and partial lipodystrophy.

Figure 1

A) Family pedigrees of probands A and B showing co-segregation of p.Pro439ValfsX125 with insulin resistance, dyslipidemia, lipodystrophy and, to a lesser extent, hypertension. M1 denotes PLIN1 p.Pro439ValfsX125 mutation, N- wild type and ND- not determined. Probands are denoted by an arrow. B) Sequence chromatogram confirming deletion of a TG base pair within exon nine (nucleotide 1298) and the predicted consequences of this mutation on the amino acid sequence of perilipin-1.

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