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Table 2 Phenotypic characteristics (gender, age, BMI, BMI-SDS) of heterozygous carriers of infrequent variants detected in the genomic region of DGAT2

From: Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

Mutation Gender Age [years] BMI [kg/m2] BMI-SDS*
p.V82A male 12 29.30 3.6
p.R297Q female 26 16.9 -1.3
  female 23 17.0 -1.6
p.G318S male 25 19.6 -1.2
  male 20 17.9 -1.9
p.L385V male 23 20.4 -0.9
c.812A > G (T194T) female 12 31.4 4.6
c.920T > C (S230S) male 13 31.5 3.7
-584C > G female 34 18.4 -1.3
-30C > T male 24 19.6 -1.4
IVS2–3C > G male 27 19.5 -1.5
IVS7+23C > T female 14 35.9 5.4
  female 16 33.8 5.2
IVS7+73C > T male 12 29.3 3.3
*22C > T male 21 33.8 4.7
  1. All individuals are heterozygous carries of these variants. * Estimates based on Hebebrand et al., 1996 (53)