Here I present: “Axenfeld–Rieger Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 阿克森菲爾德-裡格綜合症。(RIEG3) idc10=Q13.81
INTRODUCTION.
Axenfeld–Rieger syndrome is an autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.
Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
There is evidence Axenfeld-Rieger syndrome type-3 (RIEG3) is caused by heterozygous mutation in the FOXC1 gene on cytogenetic location 6p25.3 and genomic coordinates 6:1,609,915-1,613,897. The screenshot of the FOXC1 gene 3,983 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FOXC1 in the 6p25.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:655,939 | HUS1B | HUS1 checkpoint clamp component B |
| 6:1,312,098 | FOXQ1 | Forkhead box Q1 |
| 6:1,389,576 | FOXF2 | Forkhead box F2 |
| 6:1,605,531 | FOXCUT | FOXC1 upstream transcript, noncoding |
| 6:1,609,915 | FOXC1 | Forkhead, Drosophila, homolog-like 7 |
| 6:1,623,806 | GMDS | GDP-mannose 4,6-dehydratase |
| 6:2,765,393 | WRNIP1 | Werner helicase-interacting protein 1 |
| 6:2,832,332 | ELANH2 | Protease inhibitor 2 monocyte/neutrophil derived |
| 6:2,887,270 | PI9 | Protease inhibitor 9, ovalbumin type |
| 6:2,948,159 | SERPINB6 | Protease inhibitor 6 (placental thrombin inhibitor) |
