Table 1

Biochemical findings in probands with FPLD3

PPARγ mutation
CharacteristicA308P proband 1A261E proband 2A261E proband 3Normal range
SexFemaleFemaleFemale
Age at time of assessment (years)162239
Age at first presentation (years)162030
Height (m)1.461.531.45
Weight (kg)48.061.055.0
BMI (kg/m2)232626
Total body fat (%)20NANA
Predicted body fat (%)**27NANA
Truncal fat (%)22NANA
Leg fat (%)18NANA
HypertensionNoNoYes
T2DM or IGTYesYesYes
PCOS§YesYesYes
NAFLD#YesNANA
Triglyceride (mmol/L)13.016.611.3<1.7
HDL cholesterol (mmol/L)0.40.50.5>1.0
Total cholesterol (mmol/L)4.78.25.1<5.1
Insulin (pmol/L)4051253NA<60
Glucose (mU/L)22.46.412.3<6.1
HbA1c (mmol/mol)61NA7820–40
ALT (units/L)NA209<30
GGT (units/L)NA3218<35
Familial cosegregationUnaffected mother and sibling are mutation negativeAffected male sibling with the mutationAffected male sibling with the mutation
Functional score***−0.932−3.798−3.798
  • Fat mass and distribution was assessed with DXA performed with GE Lunar iDXA version 15. ALT, alanine aminotransferase; GGT, γ-glutamyl transferase; IGT, impaired glucose tolerance; NA, not available; NAFLD, nonalcoholic fatty liver disease; PCOS, polycystic ovary syndrome; T2DM, type 2 diabetes mellitus.

  • **Predicted body fat = (1.48 × BMI) − 7.

  • ¶Yes or no indicates the presence or absence of either condition.

  • §Yes or no indicates the presence or absence of this syndrome.

  • #Yes indicates NAFLD as confirmed by ultrasound and magnetic resonance spectroscopy.

  • ***Functional score as derived from http://miter.broadinstitute.org.