Here I present: “Congenital Myasthenia Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肌无神症。(CMS12).
INTRODUCTION.
Congenital myasthenia syndrome is an inherited neuromuscular disorder that usually develops at or near birth or in early childhood and involves muscle weakness and fatigue. It happens when chemicals called neurotransmitters that help relay information between the nerve cells and muscles aren’t properly released and received.
There are several types of congenital myasthenia syndrome that are caused by specific gene mutations, including the GFPT1 gene of enzyme EC# 2.6.1.16 Symptoms of congenital myasthenia syndrome include:
IN BABIES.
- Lack of muscle control.
- Not meeting development goals like rolling over or sitting.
IN OLDER CHILDREN.
- Weakness while doing physical activity.
- Droopy eyelids, a “lazy eye,” or double vision (diplopia).
- Difficulty talking or swallowing.
There is evidence that congenital myasthenic syndrome type-12 (CMS12) is caused by homozygous or compound heterozygous mutation in the glutamine-fructose-6-phosphate transaminase (GFPT1) gene [Enzyme Commission number EC# 2.6.1.16] on cytogenetic location 2p13.3 and genomic coordinates 2:69,319,780-69,387,227 . The screenshot of the GFPT1 gene 67,448 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GFPT1 in the 2p13.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:68,860,909 | BMP10 | Bone morphogenetic protein 10 |
| 2:68,945,232 | GKN2 | Gastrokine 2 |
| 2:68,974,636 | GKN1 | Gastrokine 1 |
| 2:69,013,144 | ANTXR1 | Anthrax toxin receptor 1 |
| 2:69,319,780 | GFPT1 | Glutamine-fructose-6-phosphate transaminase |
| 2:69,395,750 | NFU1 | NFU1 iron-sulfur cluster scaffold |
| 2:69,457,997 | AAK1 | Adaptor protein 2-associated kinase 1 |
| 2:69,643,808 | ANXA4 | Annexin A4 (placental anticoagulant protein II) |
| 2:69,829,660 | GMCL1 | Germ cell-less 1, spermatogenesis-associated |
| 2:69,893,956 | SNRNP27 | Small nuclear ribonucleoprotein subunit 27 |
