Here I present: “Arthrogryposis Multiplex Congenita Neurogenic-type”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (AMCN).
INTRODUCTION.
Arthrogryposis Multiplex Congenita (AMC) describes congenital joint contracture in two (2) or more areas of the body.
There is evidence that arthrogryposis multiplex congenita neurogenic-type (AMCN) is caused by homozygous mutation in the endoplasmic reticulum-golgi compartment protein (ERGIC) gene on cytogenetic location 5q35.1 and genomic coordinates 5:172,834,251-172,952,683. The screenshot of the ERGIC gene 118,433 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ERGIC in the 5q35.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:172,209,646 | UBTD2 | Ubiquitin domain-containing protein 2 |
| 5:172,325,181 | SH3PXD2B | SH3 and PX domains-containing protein 2B |
| 5:172,641,263 | NEURL1B | Neuralized E3 ubiquitin protein ligase 1B |
| 5:172,768,096 | DUSP1 | Dual specificity phosphatase-1 |
| 5:172,834,251 | ERGIC | Endoplasmic reticulum-golgi compartment protein |
| 5:172,983,771 | ATP6V0E1 | ATPase, H+ transporting, V0 subunit E1 |
| 5:173,020,726 | SNORA74B | Small nucleolar RNA, H/ACA box, 74B |
| 5:173,056,352 | CREBRF | CREB3 recruitment factor |
| 5:173,144,531 | BNIP1 | BCL2/adenovirus E1B 19kD protein-interacting protein 1 |
| 5:173,232,109 | NKX2-5 | NK2 homeobox-5 gene |
