Here I present: “Iridogoniodysgenesis Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 顡子形成綜合徵。(IGDS).
INTRODUCTION.
Iridogoniodysgenesis Syndrome (Eyeball Anterior Segment Dysgenesis) is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eyeball.
There is evidence iridogoniodysgenesis syndrome (IGDS) is caused by heterozygous mutation in the paired-like homeodomain transcription factor-2 (PITX2) gene on cytogenetic location 4q25 and genomic coordinates 4:110,617,423-110,642,123. The screenshot of the PITX2 gene 24,701 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PITX2 in the 4q25 cytogenetic location.
| Coordinate | Symbol | Genomic Name |
| 4:109,912,883 | EGF | Epidermal growth factor (urogastrone) |
| 4:110,045,846 | ELOVL6 | Elongation of very long chain fatty acids-like 6 |
| 4:110,476,155 | ENPEP | Glutamyl aminopeptidase (aminopeptidase A) |
| 4:110,595,513 | PANCR | PITX2 adjacent noncoding RNA |
| 4:110,617,423 | PITX2 | Paired-like homeodomain transcription factor-2 |
| 4:110,860,582 | MIR297 | Micro RNA 297 |
| 4:112,231,787 | AP1AR | Adaptor-related protein 1-associated regulatory protein |
| 4:112,274,537 | TIFA | TRAF-interacting protein with forkhead domain |
| 4:112,297,369 | ALPK1 | Alpha-kinase 1 |
| 4:112,513,516 | NEUROG2 | Neurogenin 2 |
