Table 1 ADAMTSL4 genetic variants detected in the IEL patients by Sanger sequencing of this gene

Patient 1

exon 6

g.150526044 G > C

c.577G > C

p.Ala193Pro

rs41317515

Het

intron 8

g.150527292 G > A

c.1303 + 182G > A

rs9659061

Het

intron 8

g.150527294 C > T

c.1303 + 184C > T

rs12124948

Het

intron 8

g.150527703_150527704 ins TCAT

c.1304-202_1304-201insTCAT

Het

intron 11

g.150529323_150529324 ins TT

c.1818 + 54_1818 + 55insTT

Het

exon 16

g.150558532 T > C

c.2511 T > C

p.Asn837Asn

rs1088382

Hom

exon 16

g.150558574 G > A

c.2553G > A

p.Pro851Pro

rs10749657

Het

intron 16

g.150558694 C > T

c.2628 + 45C > T

rs10749658

Hom

Patient 2

exon 6

g.150526044 G > C

c.577G > C

p.Ala193Pro

rs41317515

Het

intron 8

g.150527292 G > A

c.1303 + 182G > A

rs9659061

Het

intron 8

g.150527294 C > T

c.1303 + 184C > T

rs12124948

Het

intron 8

g.150527703_150527704insTCAT

c.1304-202_1304-201insTCAT

Het

intron 11

g.150529323_150529324insTT

c.1818 + 54_1818 + 55insTT

Het

exon 16

g.150558532 T > C

c.2511 T > C

p.Asn837Asn

rs1088382

Hom

exon 16

g.150558574 G > A

c.2553G > A

p.Pro851Pro

rs10749657

Het

intron 16

g.150558694 C > T

c.2628 + 45C > T

rs10749658

Hom

intron 16

g.150531380 T > C

c.2629-58 T > C

rs11204664

Het