Here I present: “Muir-Torre Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 缪尔-托雷综合症。(MRTES).
INTRODUCTION.
Muir–Torre syndrome (MRTES) is a hereditary, autosomal dominant syndrome that is thought to be a subtype of HNPCC (Lynch syndrome). Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors. The genes affected are MLH1, MSH2, and MSH6, and are involved in DNA mismatch repair.
There is evidence that Muir-Torre syndrome (MRTES), which is part of the Lynch cancer family syndrome-1 (LYNCH1) is caused by heterozygous mutation in the mismatch repair gene (MSH2) on cytogenetic location 2p21-p16.3 and genomic coordinates 2:47,403,067-47,709,830 . The screenshot of the MSH2 gene 306,764 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MSH2 in the 2p21-16.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:46,915,866 | TTC7A | Tetratricopeptide repeat domain 7A |
| 2:47,160,082 | CALM2 | Calmodulin-2 |
| 2:47,335,315 | BCYRN1 | Brain cytoplasmic RNA 1 |
| 2:47,369,311 | EPCAM | Epithelial cellular adhesion molecule |
| 2:47,403,067 | MSH2 | mutS homolog 2 |
| 2:47,500,001 | ASRT3 | Asthma-related traits, susceptibility to, 3 |
| 2:47,500,001 | CNC2 | Carney complex, type II |
| 2:47,500,001 | DYX3 | Dyslexia, susceptibility to, 3 |
| 2:47,500,001 | STQTL24 | Stature quantitative trait locus 24 |
| 2:47,509,290 | KCNK12 | Potassium channel, subfamily K, member 12 |
