A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

ABSTRACT:

Background

Congenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)-rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl^- /HCO3^- , Na⁺ -independent exchanger. Various mutations of SLC26A3 have been described in CCD. However, no de novo mutations have been found to be responsible for CCD. Here we report the first such occurrence.

Methods

Clinical and laboratory findings during the perinatal period were obtained retrospectively from medical records. Mutations involving SLC26A3 were detected by Sanger sequencing.

Results

The male infant reported here was delivered at 29 weeks of gestation

SUBMITTER: Konishi KI 

PROVIDER: S-EPMC7667310 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature