Table 4 List of truncating mutations identified in the proband and his relatives
Gene symbol | Gene name | Mutation type | III.2 Proband’s blood sample | III.2 Proband’s normal colon tissue | III.2 Proband’s CRC tissue | II.1 Father’s blood sample | II.2 Mother’s blood sample | II.3 Aunt’s blood sample | III.3 Cousin’s blood sample | Inheritance |
|---|---|---|---|---|---|---|---|---|---|---|
ADHFE1 | Alcohol dehydrogenase, iron containing, 1 | Stop gain | 0/1 | 0/1 | 0/1 | 0/0 | a | 0/1 | 0/1 | NV |
AHNAK2 | AHNAK nucleoprotein 2 | Stop gain | 0/1 | 0/1 | 0/1 | 0/0 | a | 0/1 | 0/1 | NV |
BTN3A3 | Butyrophilin, subfamily 3, member A3 | Stop gain, intronic | 0/1 | 0/1 | 0/1 | a | 0/0 | 0/0 | 0/0 | NV |
CHMP2B | Charged multivesicular body protein 2B | Stop gain, intronic | 0/1 | 0/1 | 0/1 | 0/1 | 0/0 | 0/0 | 0/0 | Father |
DENND2D | DENN/MADD domain containing 2D | Stop gain, intronic | 0/1 | 0/1 | 0/1 | 0/0 | 0/1 | 0/1 | 0/1 | Mother |
HYDIN | HYDIN, axonemal central pair apparatus protein | Frameshift del | 0/1 | 0/1 | 0/1 | 0/1 | 0/1 | 0/1 | 0/1 | Father/mother |
KALRN | Kalirin, RhoGEF kinase | Stop gain, intronic | 0/1 | 0/1 | 0/1 | 0/0 | 0/1 | 0/1 | 0/1 | Mother |
GPR114 | ADGRG5, adhesion G protein-coupled receptor G5 | Frameshift del | 0/1 | 0/1 | 0/1 | 0/0 | a | 0/1 | 0/0 | NV |
MEP1A | Meprin A, alpha (PABA peptide hydrolase) | Stop gain | 0/1 | 0/1 | 0/1 | 0/0 | 0/1 | a | 0/1 | Mother |
SCCPDH | Saccharopine dehydrogenase (putative) | Frameshift ins | 0/1 | 0/1 | 0/1 | a | a | 0/0 | 0/0 | NV |
TMEM177 | Transmembrane protein 177 | Stop gain | 0/1 | 0/1 | 0/1 | 0/1 | 0/0 | 0/0 | 0/0 | Father |
TGM4 | Transglutaminase 4 | Stop gain | 0/1 | 0/1 | 0/1 | 0/1 | 0/0 | 0/0 | 0/0 | Father |
ZNF844 | Zinc finger protein 844 | Frameshift del | 0/1 | 0/1 | 0/1 | 0/0 | 0/1 | 0/1 | 0/1 | Mother |