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Table 1 ABCC8 mutated patients (ChD)

From: Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience

  Sex Genotype Family History Birth HY Onset Treatment Follow-Up
Hypoglycaemia Diabetes (IFG/IGT) At Term LGA < 72 h Postneonatal Dx responsiveness Surgery DM Obesity Neurological Impairment Duration (years)
1 M Maternal Dominant
c.G4435 > A (p.G1479R)
+ + + + + + 6
2 M Maternal Dominant
c.G4435 > A; (p.G1479R)
+ + + + + 3
3 M Maternal Dominant
c.4616G > A; (p.R1539Q)
+ + + + + + + 6
4 M Maternal Dominant
c.3088G > T; (p.D1030Y)
+ + + + + + 8
5 F Paternal Dominant
c.172G > A; (p.V58M)
+ + + + + 22
6 M De novo Dominant
c.4519G > A; (p.E1507K)
+ + + + + 22
7 M De novo Dominant
c.3133_3152del2; (p.T1045fs)
+ + + + + 20
8 M Dominant
c.1333-1013A > G (a)
+ + + 6
9 M Compound Heterozygous c.[916C > T] + [c.4433G > A]
(p.[R306C] + [p.G1478E])
+ + + + + 3
10 M Compound Heterozygous c.[1960G > T] + [4559 T > C]
(p.[E654X] + [L1520P])
+ + + + + 21
11 F Compound Heterozygous c.[3632 T > G] + not found 2nd mut
(p.L1211R)
+ + + + + 12
12 F Recessive
c.4559 T > C; (p.L1520P)
+ + + + 21
  1. (a) splicing mutation: unpredictable aminoacidic alteration; Flanagan et al. 2013 AmJHumGenet 10;192