Here I present: “Gardner Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 加德納綜合症。icd10=D12.6 (GS).
INTRODUCTION.
Gardner syndrome (GS) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors.
There is evidence familial adenomatous polyposis-1 (FAP1) and its variant Gardner syndrome are caused by heterozygous mutation in the APC regulator of WNT signaling pathway gene (APC) on cytogenetic location 5q22.2 and genomic coordinates 5:112,707,498-112,846,239. The screenshot of the APC gene 138,742 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides APC in the 5q22.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:111,223,583 | CAMK4 | Ca(2+)-calmodulin protein kinase type IV |
| 5:111,496,033 | STARD4 | Start domain-containing protein 4 |
| 5:111,728,802 | NREP | Neuronal regeneration-related protein |
| 5:112,141,829 | EPB41L4A | Erythrocyte membrane protein band 4.1-like 4A |
| 5:112,707,498 | APC | APC regulator of WNT signaling pathway |
| 5:112,861,287 | SRP19 | Signal recognition particle, 19kD |
| 5:112,876,385 | REEP5 | Receptor expression-enhancing protein 5 |
| 5:112,976,798 | DCP2 | Decapping mRNA 2 |
| 5:113,022,106 | MCC | MCC regulator of WNT signaling pathway |
| 5:113,432,553 | TSSK1 | Testis-specific serine/threonine kinase 1 |
