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

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

	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

ISSN: 1750-1172