Insulin Secretion Defect in Children and Adolescents with Obesity: Clinical and Molecular Genetic Characterization
Table 2
Genetic findings and clinical characteristics of patients with MODY.
Subject
1
2
3
4
5
Sex
M
M
F
M
F
Ethnicity
Tunisian/Caucasian
Caucasian
Turkish
German
Serbo-Croatian
Glucose tolerance
IGT
IGT
T2D
IGT
T2D
Age (years)
12.9
12.2
11.3
15.1
16.8
BMI (SD-score)
40 (3.1)
26.8 (2.06)
28.1 (2.37)
28.7 (2.06)
33.2 (2.58)
Therapy
Metformin, insulin after 2 years
Diet
Diet
Diet
Metformin
Gene
ABCC8 heterozygous
ABCC8 heterozygous
ABCC8 heterozygous
GCK heterozygous
PTF1A and GLI2 heterozygous
DNA-exchange
c.1836G>T
c.1616A>G
c.1616A>G
c.626C>T
c.499G>A c.4145G>A
Amino acid exchange
p.Glu612Asp
p.Tyr539Cys
p.Tyr539Cys
p.Thr209Met
p.Ala167Thr p.Arg1382His
Disease value
Disease-causing
Disease-causing
Disease-causing
Disease-causing
Disease-causing
IGT: impaired glucose tolerance; T2D: type 2 diabetes; Ins: insulin; Glu: glucose; AUC: area under the curve; M: male; F: female; BMI: body mass index; SD: standard deviation; ABCC8: ATP binding cassette subfamily C member 8; GCK: glucokinase; PTF1A: pancreas associated transcription factor 1a; GLI2: GLI family zinc finger 2.
