Table 2. Open in new tab Pathogenic or...

Gene

Transcript

Allele

Protein

In silico analyses

Carriers (n)

Ref.

ABCC8

NM_000352.4

c.560T>A

p.(Val187Asp)

(9)

c.1576C>T^a

p.(Arg526Cys)

(4)

c.3280_3281del^a

p.(Lys1094Glufs*19)

Novel

c.3336dup

p.(Glu1113*)

(21)

c.3551C>T

p.(Ala1184Val)

(22)

c.3640C>T

p.(Arg1214Trp)

(23)

c.4307G>A

p.(Arg1436Gln)

(24, 25)

c.4406G>T

p.(Gly1469Val)

(26)

c.4369G>A^b

p.(Ala1457Thr)

(27)

c.4372C>A

p.(Gln1458Lys)

Novel

c.4411G>A^b

p.(Asp1471Asn)

(28, 29)

c.4451G>A

p.(Gly1484Glu)

(30)

c.4516G>A

p.(Glu1506Lys)

(10)

c.4547A>C

p.(Glu1516Ala)

Novel

c.4649T>A^b

p.(Val1550Asp)

(27)

c.4651C>G

p.(Leu1551Val)

(27)

KCNJ11

NM_000525.3

c.201G>C^c

p.(Lys67Asn)

(27)

c.539C>T

p.(Thr180Ile)

Novel

C>T ^c

-54 bases proximal of the translation initiation site

(27)

GLUD1

NM_005271.4

c.965G>A

p.(Arg322His)

(31)

c.1493C>T

p.(Ser498Leu)

(32)

GCK

NM_033508.1

c.193A>G

p.(Thr65Ala)

Novel

c.638A>G

p.(Tyr213Cys)

(33)

SLC16A1

NM_003051.3

c.-391_-390ins25bp

p.?

(34)

c.-202G>A

p.?

(34)

HNF4A

NM_000457.4

c.992G>A

p.(Arg331His)

(35)

Table 2.

Open in new tab

Pathogenic or likely pathogenic variants of the patients with congenital hyperinsulinism.

Gene	Transcript	Allele	Protein	In silico analyses	Carriers (n)	Ref.
ABCC8	NM_000352.4	c.560T>A	p.(Val187Asp)	P	24	(9)
		c.1576C>T^a	p.(Arg526Cys)	P	1	(4)
		c.3280_3281del^a	p.(Lys1094Glufs*19)	P	1	Novel
		c.3336dup	p.(Glu1113*)	P	1	(21)
		c.3551C>T	p.(Ala1184Val)	P	1	(22)
		c.3640C>T	p.(Arg1214Trp)	P	1	(23)
		c.4307G>A	p.(Arg1436Gln)	P	1	(24, 25)
		c.4406G>T	p.(Gly1469Val)	P	1	(26)
		c.4369G>A^b	p.(Ala1457Thr)	P	1	(27)
		c.4372C>A	p.(Gln1458Lys)	P	1	Novel
		c.4411G>A^b	p.(Asp1471Asn)	P	2	(28, 29)
		c.4451G>A	p.(Gly1484Glu)	P	1	(30)
		c.4516G>A	p.(Glu1506Lys)	P	14	(10)
		c.4547A>C	p.(Glu1516Ala)	LP	1	Novel
		c.4649T>A^b	p.(Val1550Asp)	P	1	(27)
		c.4651C>G	p.(Leu1551Val)	P	2	(27)
KCNJ11	NM_000525.3	c.201G>C^c	p.(Lys67Asn)	P	2	(27)
		c.539C>T	p.(Thr180Ile)	P	2	Novel
		C>T ^c	-54 bases proximal of the translation initiation site	P	1	(27)
GLUD1	NM_005271.4	c.965G>A	p.(Arg322His)	P	4	(31)
		c.1493C>T	p.(Ser498Leu)	P	2	(32)
GCK	NM_033508.1	c.193A>G	p.(Thr65Ala)	P	1	Novel
		c.638A>G	p.(Tyr213Cys)	P	1	(33)
SLC16A1	NM_003051.3	c.-391_-390ins25bp	p.?	P	2	(34)
		c.-202G>A	p.?	P	1	(34)
HNF4A	NM_000457.4	c.992G>A	p.(Arg331His)	P	1	(35)

Gene	Transcript	Allele	Protein	In silico analyses	Carriers (n)	Ref.
ABCC8	NM_000352.4	c.560T>A	p.(Val187Asp)	P	24	(9)
		c.1576C>T^a	p.(Arg526Cys)	P	1	(4)
		c.3280_3281del^a	p.(Lys1094Glufs*19)	P	1	Novel
		c.3336dup	p.(Glu1113*)	P	1	(21)
		c.3551C>T	p.(Ala1184Val)	P	1	(22)
		c.3640C>T	p.(Arg1214Trp)	P	1	(23)
		c.4307G>A	p.(Arg1436Gln)	P	1	(24, 25)
		c.4406G>T	p.(Gly1469Val)	P	1	(26)
		c.4369G>A^b	p.(Ala1457Thr)	P	1	(27)
		c.4372C>A	p.(Gln1458Lys)	P	1	Novel
		c.4411G>A^b	p.(Asp1471Asn)	P	2	(28, 29)
		c.4451G>A	p.(Gly1484Glu)	P	1	(30)
		c.4516G>A	p.(Glu1506Lys)	P	14	(10)
		c.4547A>C	p.(Glu1516Ala)	LP	1	Novel
		c.4649T>A^b	p.(Val1550Asp)	P	1	(27)
		c.4651C>G	p.(Leu1551Val)	P	2	(27)
KCNJ11	NM_000525.3	c.201G>C^c	p.(Lys67Asn)	P	2	(27)
		c.539C>T	p.(Thr180Ile)	P	2	Novel
		C>T ^c	-54 bases proximal of the translation initiation site	P	1	(27)
GLUD1	NM_005271.4	c.965G>A	p.(Arg322His)	P	4	(31)
		c.1493C>T	p.(Ser498Leu)	P	2	(32)
GCK	NM_033508.1	c.193A>G	p.(Thr65Ala)	P	1	Novel
		c.638A>G	p.(Tyr213Cys)	P	1	(33)
SLC16A1	NM_003051.3	c.-391_-390ins25bp	p.?	P	2	(34)
		c.-202G>A	p.?	P	1	(34)
HNF4A	NM_000457.4	c.992G>A	p.(Arg331His)	P	1	(35)

Abbreviations: P, pathogenic; LP, likely pathogenic.

^aThe variants are compound heterozygous.

^bThe variant is compound heterozygous for the founder mutation ABCC8/c.560T>A, p.(Val187Asp).

^cThe variants are compound heterozygous.

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