Here I present: “Atelosteogenesis type-II”, Victor McKusick, Mendelian Inheritance in Man’, 1966. II型細胞生成。(AO2).
INTRODUCTION.
Atelosteogenesis type-II (AO2) is a severe disorder of cartilage and bone development. It is infants with this disorder that are usually stillborn; those who survive birth die soon after.
Atelosteogenesis is the name to this lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue.
There is evidence that atelosteogenesis type-II (AO2) and de la Chapelle dysplasia are caused by homozygous or compound heterozygous mutation in the SLC26A2 gene which encodes the diastrophic dysplasia sulfate transporter on cytogenetic location 5q32 and genomic coordinates 5:149,960,758-149,987,400. The screenshots of the SLC26A2 gene 26,643 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC26A2 in the 5q32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:149,551,625 | ARHGEF37 | Rho guanine nucleotide exchange factor 37 |
| 5:149,730,310 | PPARGC1B | Peroxisome proliferate activate receptor-gamma coactivator 1 β |
| 5:149,732,825 | MIR378 | Micro RNA 378 |
| 5:149,857,953 | PDE6A | Phosphodiesterase 6A |
| 5:149,960,758 | SLC26A2 | Solute carrier family 26 member 2 |
| 5:150,000,739 | HMGXB3 | HMG box-containing protein 3 |
| 5:150,021,531 | RPS20B | Ribosomal protein S20B |
| 5:150,053,295 | CSF1R | Colony-stimulating factor-1 receptor |
| 5:150,113,839 | PDGFRB | Platelet-derived growth factor receptor, beta |
| 5:150,166,778 | CDX1 | Caudal type homeobox transcription factor 1 |
