Genomic coordinate 7:30,594,735
Here I present: “James-infantile Spinal Muscular-atrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SMAJI) 遠端脊髓肌肉萎縮。icd10=G12
INTRODUCTION.
James infantile-spinal muscular atrophy (SMAJI) is a severe neuromuscular disorder with onset of hypotonia in the first weeks or months of life. Some patients may have normal early motor development prior to the onset of symptoms, but all show delayed motor milestones with loss of previous motor skills in the first year of life. There is muscle weakness and atrophy, primarily affecting distal muscles, resulting in the inability to walk independently and causing impairment of fine motor skills of the hands. The disorder is slowly progressive: additional features may include feeding difficulties with failure to thrive, foot deformities, hyperlordosis, scoliosis, vocal cord weakness, and respiratory insufficiency, which may require intervention. Laboratory studies are most consistent with a motor neuronopathy, although skeletal muscle biopsy may also show myopathic features. This disorder is considered to be at the most severe end of the phenotypic spectrum of disorders caused by mutations in the glycyl-tRNA synthetase-1 (GARS1) gene.
There is evidence that James-infantile Spinal muscular-atrophy (SMAJI) is caused by heterozygous mutations in the glycyl-tRNA synthetase-1 (GARS1) gene on cytogenetic location 7p14.3 and genomic coordinates 7:30,594,735-30,634,033. The screenshot of the GARS1 gene 39,299 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GARS1 in the 7p14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:30,134,986 | MTURN | Maturin, neural protenitor differentiation regulator homolog |
| 7:30,284,597 | ZNRF2 | Zinc finger and ring finger protein 2 |
| 7:30,424,527 | NOD1 | Nucleotide-binding oligomerization domain protein 1 |
| 7:30,496,621 | GGCT | Gamma-glutamylcyclotransferase |
| 7:30,594,735 | GARS1 | Glycyl-tRNA synthetase 1 |
| 7:30,651,942 | CRHR2 | Corticotropin releasing hormone receptor-2 |
| 7:30,752,135 | INMT | Indolethylamine N-methyltransferase |
| 7:30,911,853 | AQP1 | Aquaporin-1 (channel-forming integral protein, 28kD) |
| 7:30,963,953 | GHRHR | Growth hormone releasing hormone receptor |
| 7:31,052,308 | ADCYAP1R1 | ADCYAP receptor, type I |
