Here I present: “Rhizomelic Chondrodysplasia Punctata”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PEX7) 根茎软骨发育不全。icd10=E71.540
INTRODUCTION.
Rhizomelic chondrodysplasia punctata (RCDP) is a developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts.
There is evidence that rhizomelic chondrodysplasia punctata is caused by homozygous or compound heterozygous mutation in the PEX7 gene, which encodes the peroxisomal type-2 targeting signal (PTS2) receptor, on cytogenetic location 6q23.3 and genomic coordinates 6:136,822,592-136,913,934. The screenshot of the PEX7 gene 91,343 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PEX7 in the 6q23.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:135,851,701 | PDE7B | Phosphodiesterase 7B, cAMP-specific, high-affinity |
| 6:136,256,627 | BCLAF1 | BCL2-associated transcription factor 1 |
| 6:136,342,734 | MAP7 | Microtubule-associated protein-7 |
| 6:136,557,046 | MAP3K5 | Mitogen-activated protein kinase kinase kinase 5 |
| 6:136,822,592 | PEX7 | Peroxisomal biogenesis factor-7 |
| 6:136,922,301 | SLC35D3 | Solute carrier family 35, member D3 |
| 6:136,999,971 | IL20RA | Interleukin 20 receptor, alpha |
| 6:137,143,820 | IL22BP | Interleukin 22-binding protein |
| 6:137,197,484 | IFNGR1 | Immune interferon, receptor for |
| 6:137,492,199 | OLIG3 | Oligodendrocyte lineage transcription factor 3 |
