Here I present: “Progressive Pseudorheumatoid Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 漸進性假性樣樣發育不良。(PPD) icd10=Q78.8
INTRODUCTION.
Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive skeletal dysplasia with radiographic changes similar to those of spondyloepiphyseal dysplasia tarda, and clinical, but not radiographic, resemblance to rheumatoid arthritis. It is a progressive chondropathy affecting primarily the articular cartilage with characteristic skeletal abnormalities notably in the spine. Symptoms usually develop between 3 and 8 years of age.
There is evidence that progressive pseudorheumatoid dysplasia (PPD) is caused by homozygous or compound heterozygous mutation in the cellular communication network factor-6 gene (CCN6) on cytogenetic location 6q21 and genomic coordinates 6:112,052,813-112,069,686. The screenshot of the CCN6 gene 16,874 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CCN6 in the 6q21 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:111,259,339 | MFSD4B | Major facilitator superfamily domain-containing protein 4B |
| 6:111,299,033 | REV3L | Rev-3, yeast, homolog-like (polymerase, DNA, zeta) |
| 6:111,555,381 | TRAF3IP2 | TRAF3-interacting protein 2 |
| 6:111,660,332 | FYN | FYN protooncogene, SRC family tyrosine kinase |
| 6:112,052,813 | CCN6 | Cellular communication network factor 6 |
| 6:112,070,663 | TUBE1 | Tubulin, epsilon-1 |
| 6:112,107,931 | LAMA4 | Laminin, alpha-4 |
| 6:113,857,345 | MRACKS | Myristoylated alanine-rich protein kinase C substrate |
| 6:113,933,028 | HDAC2 | Histone deacetylase 2 |
