Here I present: “Ehlers-Danlos Syndromes”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 埃勒斯-丹洛斯綜合症。icd10=Q79.6 (EDS7C).
INTRODUCTION.
Ehlers–Danlos syndromes (EDS) are a group of thirteen (13) genetic connective-tissue disorders. Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
There is evidence that Ehlers-Danlos syndrome (EDS) dermatosparaxis-type is caused by mutation in the gene encoding the procollagen protease (ADAMTS2) on cytogenetic location 5q35.3 and genomic coordinates 5:179,110,853-179,345,461. The screenshot of the ADAMTS2 gene 234,609 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ADAMTS2 in the 5q35.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:178,602,664 | CLK4 | CDC-like kinase 4 |
| 5:178,711,512 | ZNF354A | Zinc finger protein 354A |
| 5:178,978,327 | GRM6 | Glutamate receptor, metabotropic, 6 |
| 5:179,060,373 | ZNF354C | Zinc finger protein 354C |
| 5:179,110,853 | ADAMTS2 | ADAM metallopeptidase thrombospondin 1 motif 2 |
| 5:179,550,554 | RUFY1 | RUN and FYVE domains-containing protein 1 |
| 5:179,614,178 | HNRPH1 | Heterogeneous nuclear ribonucleoprotein H |
| 5:179,678,560 | CBY3 | Chibby family, member 3 |
| 5:179,678,656 | CANX | Calnexin |
| 5:179,732,822 | MAML1 | Mastermind, Drosophila, homolog of, 1 |
