Skip to main content

Table 4 Reported mutations in SLC26A3, EPCAM, and MYO5B in East Asia

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

Gene Exon/intron Mutation type cDNA variant protein variant Patients (n) Region Reference
SLC26A3 Exon 3 Missense c.239G > A p.G80D 1 China Zhang, et al. [3]
  Exon 3 Insertion c.268-269insAA/ c.269-270dupAA p.G91Kfs*3 7 China This study; Liu et al., Lin et al., Wang et al. [4,5,6]
  Exon 4 Missense c.358G > T p.G120C 2 Japan Konishi et al. [7]
  Exon 4 Missense c.358G > A p.G120S 1 Japan Konishi et al. [7]
  Exon 4 Deletion c.354delC p.F119Sfs*15 1 Japan Matsunoshita et al. [8]
  Exon 4 Missense c.272G > T p.G91V 1 Korea Bhardwaj et al. [9]
  Exon 4 Missense c.358G > A p.G120S 1 China Li et al. [10]
  Exon 5 Missense c.392C > G p.P131R 1 Japan Konishi et al. [7]
  Exon 5 Missense c.392C > T p.P131A 1 Japan Konishi et al., Fuwa et al. [7, 11]
  Exon 5 Missense c.401G > A p.S134N 1 Korea Hong et al.[12]
  Exon 5 Missense c.392C > T p.P131L 2 Korea Hong et al. [12]
  Exon 5 Missense c.525G > C p.R175S 1 Korea Lee et al.[13]
  Exon 6 Missense c.634G > T p.G212C 1 China Li et al. [10]
  Exon 7 Missense c.877G > A p.E293K 1 Japan Matsunoshita et al. [8]
  Exon 9 Insertion c.1007-1008insT p.F336Ffs*34 5 Japan Konishi et al. [7, 8]
  Exon 9 Missense c.1043T > A p.M348K 1 Japan Konishi et al. [7]
  Exon 9 Missense c.1039G > A p.A347T 1 China Wu et al. [14]
  Exon 10 Missense c.1198T > C p.S400P 1 Japan Konishi et al. [7]
  Exon 11 Missense c.1299G > A p.A433A ND Japan Lechner et al. [15]
  Exon 12 Deletion c.1342-1343del p.L448Kfs*9 4 Japan Makela et al., Konishi et al. [7, 16]
  Exon 12 Missense c.1387C > T p.R463X 1 China Guo et al. [17]
  Exon 13 Missense c.1487T > G p.L496R 3 China Makela et al. [16]
  Exon 13 Missense c.1483C > A p.Q495K 1 China Guo et al. [17]
  Exon 15 Missense c.1631T > A p.I544N 2 China Lei et al., Song et al. [18, 19]
  Exon 15 Missense c.1644C > G p.N548K 1 Japan Konishi et al. [7]
  Exon 15 Missense c.1661G > A p.R554Q ND Japan Lechner et al. [15]
  Exon 16 Nonsense c.1696C > T p.R566* 1 China This study
  Exon 18 Missense c.2048T > A p.I683N 1 China Liu et al. [4]
  Intron 6 Splice-site change c.735 + 4_735 + 7del Intron donor site GT loss 1 China Lin et al. [5]
  Intron 7 Splice-site change c.888 + 1G > A Intron donor site GT loss 2 Japan Konishi et al. [7]
  Intron 12 Splice-site change c.1407 + 3A > C Intron donor site GT loss 1 Korea Hong et al. [12]
  Intron 15 Splice-site change c.1677 + 1G > C Intron donor site GT loss 1 Japan Konishi et al. [7]
  Intron 18 Splice-site change c.2063-1G > T Intron acceptor site AG loss 7 Japan Konishi et al., Fuwa et al. [7, 11]
  9 Korea Hong et al., Lee et al. [12, 13]
  Intron 6 to 8 Deletion 3.5 kb deletion Exon 7 to 8 deletion 2 Japan Makela et al. [16]
EPCAM Exon 2 Nonsense c.96C > A p.Y32* 1 China This study
  Exon 3 Missense c.316A > T p.K106X 2 Korean Ko et al. [20]
  Exon 3 Missense c.307G > A p.G103R 1 China Tang et al. [21]
  Exon 3 Missense c.412C > T p.R138X 1 China Yuan et al. [22]
  Exon 7 Deletion c.823delG p.V275Wfs*2 1 China This study
  Intron 2 Splice-site change c.184 + 6T > G Splicing mutation 1 China This study
  Intron 5 Splice-site change c.491 + 1G > A Splicing mutation 2 Korean Ko et al. [20]
  Exon 1–9 Large deletion Exon 1–9 deletion Exon 1–9 deletion 1 China This study
  Exon 2–5 Large deletion Exon 2–5 deletion Exon 2–5 deletion 1 China Tang et al. [21]
MYO5B Exon 4 Missense c.445C > T p.Q149X 2 (sibling) Taiwan, China Chen et al. [23]
  Exon 9 Missense c.1021C > T p.Q341X 2 (sibling) Taiwan, China Chen et al. [23]
  Exon 10 Missense c.1306G > T p.V436F 1 China This study
  Exon 16 Missense c.1966C > T p.R656C 1 China Cheng et al. [24]
  Exon 21 Deletion c.2729_2731delC p.R911Afs916* 1 China Mao et al. [25]
  Exon 24 Nonsense c.3190C > T p.R1064* 1 China This study
  Intron 3 Splice-site change c.310 + 2Tdup Splicing mutation 1 China Cheng et al. [24]
  Intron 37 Splice-site change IVS37-1G > C Splicing mutation 1 China Mao et al. [25]
  1. ND no data