Here I present: “Diphtheria Toxin Receptor“, Victor McKusick, Mendelian Inheritance in Man’, 1966. 白喉毒素受體。icd10=A36 (DTR).
INTRODUCTION.
Diphtheria is an infection caused by the bacterium Corynebacterium diphtheriae. Most infections are asymptomatic or have a mild clinical course, but in some outbreaks, the mortality rate approaches 10%. Signs and symptoms may vary from mild to severe and usually start two to five days after exposure. Symptoms often develop gradually, beginning with a sore throat and fever. In severe cases, a grey or white patch develops in the throat, which can block the airway, and create a barking cough similar to what is observed in croup. The neck swell, in part due to the enlargement of the facial lymph nodes. Diphtheria can also involve the skin, eyes, or genitals, and can cause complications, including myocarditis (which in itself can result in an abnormal heart rate), inflammation of nerves (which can result in paralysis), kidney problems, and bleeding problems due to low levels of platelets.
Diphtheria toxin was discovered in 1888 by Émile Roux and Alexandre Yersin. In 1890, Emil Adolf von Behring developed an anti-toxin based on the blood of horses immunized with attenuated bacteria. In 1951, Freeman found that the toxin gene was not encoded on the bacterial chromosome, but by a lysogenic phage (corynephage-β) infecting all toxigenic strains.
There is evidence that the diphtheria toxin receptor is heparin-binding EGF-like growth factor (HBEGF) encoded on cytogenetic location 5q31.3 and 5:140,332,843-140,346,603. The screenshot of the HBEGF gene 13,761 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HBEGF in the 5q31.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:139,742,475 | PSD2 | Pleckstrin and Sec7 domains-containing protein 2 |
| 5:139,846,781 | NRG2 | Neuregulin 2 |
| 5:140,114,109 | PURA | Purine-rich element binding protein A |
| 5:140,245,035 | PFDN1 | Prefoldin 1 |
| 5:140,332,843 | HBEGF | Heparin-binding EGF-like growth factor |
| 5:140,360,194 | SLC4A9 | Solute carrier family 4 (anion exchanger), member 9 |
| 5:140,401,833 | ANKHD1 | Ankyrin repeat and KH domain-containing protein 1 |
| 5:140,547,662 | EIF4EBP3 | Eukaryotic translation initiation factor 4E-binding protein 3 |
| 5:140,550,067 | SRA1 | Steroid receptor RNA activator 1 |
| 5:140,558,268 | APBB3 | Amyloid beta (A4) precursor protein-binding B, 3 |
