Genomic coordinate 8:65,100,001
Here I present: “Duane Retraction Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DURS) 杜安內縮回綜合徵。icd10=H50.81
INTRODUCTION.
Duane retraction syndrome (DURS) consists four (4) types of congenital strabismus (abnormal alignment of the eyes) most commonly characterized by the inability of the eyes to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Sigmund Türk (1896), and subsequently named after Alexander Duane (1858-1926), who discussed the disorder in more detail in 1905.
Duane retraction syndrome (DURS) consists of four (4) types of congenital eye movement disorder characterized by a failure of cranial nerve VI (abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision.
There is evidence Duane retraction syndrome type-1 (DURS1) maps to cytogenetic location 8q13 and genomic coordinates 8:65,100,001-72,000,000. The screenshot of the DURS gene 6,900,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DURS in the 8q13 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:64,580,365 | BHLHE22 | Basic helix-loop-helix family, member E22 |
| 8:64,586,575 | CYP7B1 | Cytochrome P450, subfamily VIIB polypeptide 1 |
| 8:65,100,001 | CMT2H | Charcot-Marie-Tooth disease, axonal, type 2H |
| 8:65,100,001 | DEL8q13 | Mesomelia-synostoses syndrome |
| 8:65,100,001 | DURS1 | Duane retraction syndrome 1 |
| 8:65,100,001 | FEB1.. | Febrile seizures, familial, 1 |
| 8:65,602,458 | ARMC1 | Armadillo repeat-containing protein 1 |
| 8:65,643,889 | MTFR1 | Mitochondrial fission regulator 1 |
| 8:65,714,334 | PDE7A | Phosphodiesterase-7A |
| 8:66,014,978 | DNAJC5B | DNAJ/HSP40 homolog, subfamily C, member 5, beta |
