Here I present: “Corneal Dystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 角膜營養不良。icd10=H18.51 (TGFBI).
INTRODUCTION.
Corneal dystrophy is a group (shown ABOVE) of hereditary disorders characterized by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea.
There is evidence that the Avellino-type corneal dystrophy is caused by heterozygous mutation in the gene encoding transforming growth factor-beta (TGFBI) on cytogenetic location 5q31.1 and genomic coordinates 5:136,028,988-136,063,818. The screenshot of the TGFBI gene 34,831 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TGFBI in the 5q31.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:135,579,172 | SLC25A48 | Solute carrier family 25, member 48 |
| 5:135,892,246 | IL9 | Interleukin-9 |
| 5:135,930,297 | FBXL21 | F-box and leucine-rich repeat protein 21 |
| 5:135,946,904 | LECT2 | Leukocyte cell-derived chemotaxin 2 |
| 5:136,028,988 | TGFBI | Transforming growth factor, beta-induced |
| 5:136,080,491 | VTRNA2-1 | Vault RNA 2-1 |
| 5:136,129,513 | SMAD5AS1 | SMAD5 antisense RNA1, noncoding |
| 5:136,132,845 | MADH5 | Mothers against decapentaplegic, homolog 5 |
| 5:136,975,298 | SPOCK | Testican |
| 5:137,617,500 | KLHL3 | Kelch-like 3 |
