Here I present: “Multiple Epiphyseal Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 多骨蕉骨發育不良。icd10=Q78.8 (EDM4).
INTRODUCTION.
Multiple epiphyseal dysplasia (MED) is a genetic disorder (dominant form & autosomal recessive) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.
There is evidence that autosomal recessive multiple epiphyseal dysplasia-4 (EDM4) is caused by homozygous or compound heterozygous mutation in the SLC26A2 gene on cytogenetic location 5q32 and genomic coordinates 5:149,960,758-149,987,400. The screenshot of the SLC26A2 gene 26,643 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC26A2 gene 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 proliferator-activated receptor-gamma, coactivator 1, beta |
| 5:149,732,825 | MIR378 | Micro RNA 378 |
| 5:149,857,953 | PDE6A | Phosphodiesterase 6A |
| 5:149,960,758 | SLC26A2 | Solute carrier family 26 (sulfate transporter) 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; oncogene FMS |
| 5:150,113,839 | PDGFRB | Platelet-derived growth factor receptor, beta polypeptide |
| 5:150,166,778 | CDX1 | Caudal type homeobox transcription factor 1 |
