Here I present: “Axenfeld-Rieger Anomaly”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=Q13.81
INTRODUCTION.
Axenfeld–Rieger syndrome is an autosomal dominant disorder, which affects the development of the teeth, eyes & abdomen.
Axenfeld-Rieger syndrome is characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia’ of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies.
There is evidence Axenfeld-Rieger syndrome 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 3,963 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, 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 (anti-elastase), monocyte/neutrophil derived |
| 6:2,887,270 | PI9 | Protease inhibitor 9, ovalbumin type |
| 6:2,948,159 | SERPINB6 | Protease inhibitor 6 (placental thrombin inhibitor) |
