Here I present: “Progressive External Ophthalmoplegia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 漸進性外眼癱。(PEO).
INTRODUCTION.
Progressive external ophthalmoplegia (PEO) is a type of eye disorder characterized by a slow progressive inability to move the eyes and eyebrows. It is often the only feature of mitochondrial disease, in which case the term PEO may be given as the diagnosis. In other people suffering from mitochondrial disease, PEO occurs as part of a syndrome involving more than one part of the body, such as Kearns–Sayre syndrome. Occasionally PEO may be caused by conditions other than mitochondrial diseases.
There is evidence autosomal dominant progressive external ophthalmoplegia (PEO) with mitochondrial DNA’ deletions-2 (PEOA2) is caused by heterozygous mutation in the nuclear-encoded ANT1 gene (SLC25A4) on cytogenetic location 4q35.1 and genomic coordinates 4:185,143,266-185,150,382. The screenshot of the SLC25A4 gene 7,117 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC25A4 in the 4q35.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:184,649,738 | CCDC111 | Coiled-coil domain containing 111 |
| 4:184,694,085 | MLF1IP | MLF1-interacting protein (centromere protein U) |
| 4:184,755,595 | ACSL1 | Acyl-CoA synthetase long-chain family member 1 |
| 4:185,018,490 | HELT | HELT basic helix-loop-helix transcription factor |
| 4:185,143,266 | SLC25A4 | Solute carrier family 25 (mitochondrial carrier) |
| 4:185,159,665 | CFAP97 | Cilia- and flagella-associated protein 97 |
| 4:185,204,237 | SNX25 | Sorting nexin 25 |
| 4:185,363,872 | LRP2BP | LRP2-binding protein |
| 4:185,396,841 | ANKRD37 | Ankyrin repeat domain-containing protein 37 |
| 4:185,399,537 | UFSP2 | UFM1-specific peptidase 2 |
