Here I present: “Desmoid Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966.德斯莫伊德病。(APC).
INTRODUCTION.
Desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically.
Desmoid tumors are a type of fibromatosis and related to sarcoma, though without the ability to spread throughout the body (metastasize). The tumors arise from cells called fibroblasts, which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing.
There is evidence hereditary desmoid disease (DESMD) can be caused by heterozygous mutation in the APC gene on cytogenetic location 5q22.2 and genomic coordinates 5:112,707,498-112,846,239. The screenshot of the APC gene 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 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
|
