Here I present: “Classic-like Ehlers-Danlos Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 埃勒斯-丹洛斯綜合症。(EDSCLL) idc10=Q79.61.
INTRODUCTION.
Classic-like Ehlers-Danlos syndrome type-1 (EDSCLL1) is a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility.
Tenascin-X is a glycoprotein, a member of the tenascin family, that is expressed in connective tissues. The tenascin is encoded by the TNXB gene.
The TNXB protein is expressed in many parts of the body, including the skin, muscles, kidneys, blood vessels, and digestive tract.
Deficiencies in the TNXB protein due to mutations or not enough of it being produced can lead to the condition classic-like Ehlers-Danlos is syndrome.
There is classic-like Ehlers-Danlos syndrome type-1 (EDSCLL1) is caused by homozygous or compound heterozygous mutation in the tenascin-XB gene (TNXB) on cytogenetic location 6p21.33-6p21.32 and genomic coordinates 6:32,041,153-32,109,338. The screenshot of the TNXB gene 68,186 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TNXB in the 6p21.33-6p21.32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:31,971,175 | STK19 | Serine/threonine protein kinase 19 |
| 6:31,982,057 | C4A | Complement component-4A |
| 6:32,014,795 | C4B | Complement component-4B |
| 6:32,038,415 | CYP21A2 | Cytochrome P450, subfamily XXIA, polypeptide 2 |
| 6:32,041,153 | TNXB | Tenascin XB |
| 6:32,115,264 | ATF6B | Activating transcription factor 6 beta |
| 6:32,128,707 | FKBPL | FK506-binding protein-like |
| 6:32,148,363 | PRRT1 | Proline-rich transmembrane protein 1 |
| 6:32,153,528 | PPT2 | Palmitoyl-protein thioesterase-2 |
| 6:32,164,595 | EGFL8 | Epidermal growth factor-like 8 |
