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Table 2 Genetic characterisation of patients with medically treated K-ATP CHI

From: Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

Patient

Mutation

Paternal

Maternal

de novo

Reference

#1

Large deletion/Missense

ABCC8

p.? (c.(2258+1_2259-1)_(2294+1_2295-1)del)

ABCC8

p.A355T (c.1063G>A)

 

Deletion is novel, A355T reported in Ismail (2010) [24], Russo (2011) [25], Snider (2013) [8], Mohnike (2014) [26]

#2

Missense

 

KCNJ11

p.T294M (c.881C>T)

 

Arya (2014) [9], Shimomura (2009) [27], Bellanne-Chantelot (2010) [28], Ilmaran (2010) [29], Gong (2015) [13]

#3

Missense

  

ABCC8

p.L508P (c.1523T>C)

Aguilar-Bryan (1999) [30]

#4

Missense

 

ABCC8

p.T1516M (c.4547C>T)

 

Banerjee (2011) [10]

#5

Missense

 

ABCC8

p.R1539Q (c.4616G>A)

 

Pinney (2008) [31], Park (2011) [32], Kapoor (2011) [33]

#6

Missense

ABCC8

p.A1263T (c.3787G>A)

  

Ayra (2014) [9], Christesen (2012) [34]

#7

Missense

 

ABCC8

p.G1382S (c.4144G>A)

 

Nestorowicz (1998) [35], Shyng (1998) [36]

#8

Missense

 

ABCC8

p.T1516M (c.4547C>T)

 

Banerjee (2011) [10]

#9

Splicing/Splicing

ABCC8

p.? (c.1467+5G>A)

ABCC8

p.? (c.1467+5G>A)

 

Powell (2011) [37]

#10

Missense

KCNJ11

p.R34C (c.100C>T)

  

Snider (2013) [8]

#11

Splicing

ABCC8

p.? (c.2041-21G>A)

  

Ohkubo (2005) [38], Suchi (2006) [39], Hardy (2007) [40], Mohnike (2014) [26], Lee (2015) [41]

#12

Missense/Nonsense

ABCC8

p.G70R (c.208G>A)

ABCC8

p.R842* (c.2524G>T)

 

G70R: Banerjee (2011) [10]; R842* : Brunetti-Pierri (2008) [42], Mohnike (2014) [26]

#13

Missense

KCNJ11

p.G40D (c.119G>A)

  

Suchi (2006) [39]

#14

Splicing/Splicing

ABCC8

p.? (c.1467+5G>A)

ABCC8

p.? (c.1467+5G>A)

 

Powell (2011) [37]

#15

Missense

KCNJ11

p.G40D (c.119G>A)*

  

Suchi (2006) [39]

#16

Missense

KCNJ11

p.R195H (c.584G>A)

  

Coventry (2010) [43], Russo (2011) [25], Snider (2013) [8]

#17

Missense/Missense

ABCC8

p.R526C (c.1576C>T)

ABCC8

p.R526C (c.1576C>T)

 

Sogno Valin (2013) [21], Snider (2013) [8], Arya (2014) [44]

#18

Missense

KCNJ11

p.R206L (c.617G>T)

  

Novel

#19

Missense

  

ABCC8

p.I1512T (c.4535T>C)

Pinney (2008) [31]

#20

Missense

 

ABCC8

p.D310N (c.928G>A)

 

Fernandez-Marmiesse (2006) [45], Pinney (2008) [31]

#21

Missense

KCNJ11

p.R206C (c.616C>T)

  

Bennett (2015) [46]

  1. Genetic characterisation of patients with medically treated K-ATP CHI, showing gene defect, protein changes, type of mutation, mode of inheritance and citations (see references). *The p.G40D mutation is presumed to be of paternal origin. The mutation was not present in the sample from the mother and the father was unavailable for testing. The mutation in patient #16 has been classified in other publications as a variant of uncertain significance
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172