Genomic coordinate 8:64,586,575
Here I present: “Spastic Paraplegia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 痙攣性截癱。icd10=G82.12
INTRODUCTION.
Spastic paraplegia is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia.
The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, severe, lower extremity spasticity.
There is evidence spastic paraplegiatype-5A is caused by homozygous or compound heterozygous mutation in the cytochrome-P450, subfamily-VIIB polypeptide-1 (CYP7B1) gene on cytogenetic location 8q12.3 and genomic coordinate 8:64,586,575 . Nine (9) other genes besides CYP7B1 in the 8q12.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:63,015,079 | GGH | Gamma-glutamyl hydrolase |
| 8:63,058,409 | TTPA | Tocopherol, alpha, transfer protein |
| 8:63,168,553 | YTHDF3 | YTH N6-methyladenosine RNA-binding protein 3 |
| 8:64,580,365 | BHLHE22 | Basic helix-loop-helix family, member E22 |
| 8:64,586,575 | CYP7B1 | Cytochrome P450, subfamily VIIB polypeptide 1 |
| 8:65,100,001 | CMT2H | Charcot-Marie-Tooth disease, axonal, type 2H |
| 8:65,100,001 | DEL8q13 | Mesomelia-synostoses syndrome |
| 8:65,100,001 | DURS1 | Duane retraction syndrome 1 |
| 8:65,100,001 | FEB1 | Febrile seizures, familial, 1 |
| 8:65,602,458 | ARMC1 | Armadillo repeat-containing protein 1 |
