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Table 3 Effects of butyrate on fecal electrolytes loss and on stool pattern, according to variation of genotype in patients with congenital chloride diarrhea

From: Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea

 

Genotype

Response to butyrate

Patient

SLC26A3 genotype

Type of mutation

Fecal Cl-loss

Stool Pattern*

1

c.1484A > C*

Missense

Reduced

Improved

c.1640C > A*

2

c.386C > T

Missense

Reduced

Improved

c.386C > T

3

c.1008-151_2061 + 1546del*

Deletion

Reduced

Improved

c.1008-151_2061 + 1546del*

4

c.2132 T > G

Nonsense

Unchanged

Unchanged

c.2132 T > G

5

c.559G > T

Nonsense

Unchanged

Unchanged

c.559G > T

6

c.559G > T

Nonsense

Unchanged

Unchanged

c.559G > T

7

c.1408-G > C*

Splicing

Unchanged

Unchanged

c.1408-G > C*

  1. *defined as a significant reduction of a least two out of three parameters (bowel movements, stool volume, stool consistency).
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