Here I present: “Charcot-Marie-Tooth Neuropathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Charcot-Marie-Tooth神經病。(CMT4C).
INTRODUCTION.
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder. It is named after those three (3) who classically described it: the Frenchman Jean-Martin Charcot his pupil Pierre Marie and the British Howard Tooth.
SH3 domain and tetratricopeptide repeats-containing protein-2 is a protein that in humans is encoded by the SH3TC2 gene. It is believed to be expressed in Schwann cells that wrap the myelin sheath around nerves.
There is evidence that Charcot-Marie-Tooth disease type-4C (CMT4C) is caused by homozygous or compound heterozygous mutation in the SH3TC2 gene on cytogenetic location 5q32 and genomic coordinates 5:148,982,150-149,063,062. The screenshot of the SH3TC2 gene 80,913 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SH3TC2 in the 5q32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:148,321,305 | SPINK9 | Serine protease inhibitor, Kazal-type, 9 |
| 5:148,383,958 | FBXO38 | F-box only protein 38 |
| 5:148,451,032 | HTR4 | 5-hydroxytryptamine (serotonin) receptor-4 |
| 5:148,826,611 | ADRB2 | Adrenergic, beta-2-, receptor, surface |
| 5:148,982,150 | SH3TC2 | SH3 domain and tetratricopeptide repeat domain 2 |
| 5:149,141,493 | ABLIM3 | Actin-binding LIM protein family, member 3 |
| 5:149,271,859 | AFAP1L1 | Actin filament-associated protein 1-like 1 |
| 5:149,345,499 | GRPEL2 | GrpE-like 2, mitochondrial |
| 5:149,374,267 | IL17B | Interleukin 17B |
| 5:149,428,918 | MIR143 | Micro RNA 143 |
