Here I present: “Osteopetrosis Type-II”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
IINTRODUCTION.
Osteopetrosis Type-II is an autosomal dominant disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften.
There is evidence that autosomal dominant Osteopetrosis Type-II (OPTA2) is caused by heterozygous mutation in the chloride channel-7 (CLCN7) gene on cytogenetic location 16p13 and genomic coordinates 16:1,444,935-1,475,028 .
The screenshot of the chloride channel-7 (CLCN7) gene 30,094 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides OPTA2 in the 16p13 cytogenetic location are listed BENEATH
| Coordinate | Symbol | Genomic Name. |
| 16:1,363,205 | UNKL | Unkempt family-like zinc finger |
| 16:1,419,752 | UQCC4 | Ubiquinol-cytochrome c reductase factor 4 |
| 16:1,431,078 | PERCC1 | Proline- and glutamate-rich protein coiled-coil 1 |
| 16:1,434,383 | CCDC154 | Coiled-coil domain-containing protein 154 |
| 16:1,444,935 | OPTA2 | Osteopetrosis autosomal dominant 2 |
| 16:1,485,886 | PTX4 | Pentraxin 4, long |
| 16:1,493,360 | TELO2 | Telomere maintenance 2 |
| 16:1,510,427 | IFT140 | Intraflagellar transport 140 |
| 16:1,528,678 | TMEM204 | Transmembrane protein 204 |
| 16:1,678,279 | JPT2 | Jupiter microtubule-associated homolog 2 |
