Congenital diarrhea type 7 related to DGAT1 gene: first report from India

Congenital diarrhea type 7 first Indian case

Abstract

We report the first familial case of DGAT1 gene related congenital diarrhea type 7, protein losing enteropathy (MIM615863), an autosomal recessive genetic disease from India. A couple had lost their previous child in the neonatal period. Next generation sequencing analysis for around 6500 clinically relevant genes was done for a couple, which identified them to be carrier for a novel pathogenic mutation at the donor splice site junction of exon 6 - intron 6 in the DGAT1 gene (GRCh37: chr8: 145542123:C>T or NM_012079:exon6:c.574+1G>A). The couple chose prenatal diagnosis by fetal DNA mutation analysis for the DGAT1 gene variant c.574+1G>A in their subsequent pregnancy, which showed absence of the mutation in homozygous state. A healthy baby was delivered who is asymptomatic for diarrhea till four years  of age.