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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).