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Table 3 Genetic analysis of four patients with neonatal-onset watery diarrhea

From: Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

  Patient 1 Patient 2 Patient 3 Patient 4
MIM 185,535 185,535 214,700 251,850
Gene EPCAM EPCAM SLC26A3 MYO5B
Position (Hg19) Chr2: Chr2: Chr7: Chr18:
47,600,715 47,600,621 107,415,299 47,500,736
47,596,623–47,613,791 47,607,073 107,434,187 47,405,401
Transcripts NM_002354.2 NM_002354.2 NM_000111.2 NM_001080467.2
Variants (cDNA)
 Variants1 c.184 + 6T > G c.96 C > A c.1696 C > T c.1306 G > T
 Variants2 Exon 1–9 large deletion c.823delG c.269_270dupAA c.3190 C > T
Variants (protein)
 Variants1 Splice-site change p.Y32* p.R566* p.V436F
 Variants2 Exon 1–9 large deletion p.V275Wfs*2 p.G91Kfs*3 p.R1064*
Consequence
 Variants1 Splicing mutation Nonsense Nonsense Missense
 Variants2 17.168 kb deletion Frameshift Frameshift Nonsense
Exon/intron
 Variants1 Intron 2 Exon 2 Exon 16 Exon 10
 Variants2 Exon 1–9 large deletion Exon 7 Exon 3 Exon 24
Parental origin
 Variants1 Maternal Maternal Paternal Paternal
 Variants2 Paternal Paternal Maternal Maternal
Pathogenicity
 Variants1 Pathogenic Likely pathogenic Pathogenic Likely pathogenic
 Variants2 Pathogenic Likely pathogenic Pathogenic Likely pathogenic