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Table 1 Reported patients with LCT mutations

From: A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

 

pt #

ethnic origin

 

exon

mutation

mutation effect c

Kuokkanen 2006 [4]

1–27

Finland

homozygous

ex09

c.4170T > A

p.Y1390*

nonsense (truncating)

28–29

Finland

compound heterozygous a

ex14

c.4998_5001delTGAG

p.S1666Kfs*58

fs (truncating)

30

Finland

compound heterozygous a

ex02

c.653_654delCT

p.S218Cfs*6

fs (truncating)

31

Finland

compound heterozygous a

ex03

c.804G > C

p.Q268H

missense

32

Finland

compound heterozygous a

ex09

c.4087G > A

p.G1363S

missense

Torniainen 2009 [6]

33

Italian

compound heterozygous

ex07

c.2062T > C

p.S688P

missense

compound heterozygous

ex12

c.4834G > T

p.E1612*

nonsense (truncating)

34

Finland

compound heterozygous a

ex06

c.1692_1696delAGTGG

p.V565Lfs*3

fs (truncating)

35

Finland

compound heterozygous a

ex12

c.4760G > A

p.R1587H

missense

36

Turkish b

homozygous

ex09

c.4087G > A

p.G1363S

missense

Uchida 2012 [7]

37

Japanese

compound heterozygous

ex10

c.4419C > G

p.Y1473*

nonsense (truncating)

compound heterozygous

ex16

c.5387delA

p.D1796Afs*18

fs (truncating)

This study 2015

38

Turkish

homozygous

ex08

c.3448delT

p.S1150Pfs*19

fs (truncating)

  1. a compound heterozygosity with c.4170 T > A; b two siblings; c fs, frameshift and premature stop (*) of translation