Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene.

ABSTRACT:

Background

Congenital lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea, meteorism and malnutrition, which start a few days after birth by the onset of nursing. The most common rationales identified for this disorder are missense mutations or premature stop codons in the coding region of the lactase-phlorizin hydrolase (LPH) gene. Recently, two heterozygous mutations, c.4419C > G (p.Y1473X) in exon 10 and c.5387delA (p.D1796fs) in exon 16, have been identified within the coding region of LPH in a Japanese infant with CLD.

Methods

Here, we investigate the influence of these mutations on the structure, biosynthesis and function of LPH. Therefore the mutant genes were transiently expressed in COS-1 cells.

Results

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SUBMITTER: Diekmann L 

PROVIDER: S-EPMC4432517 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature