Here I present: “Sandhoff Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 桑德霍夫病。
INTRODUCTION.
Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay–Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.
There is evidence Sandhoff disease is caused by mutation in the beta hexosaminidase gene (HEXB) on cytogenetic location 5q13.3 and genomic coordinates 5:74,640,023-74,721,288. The screenshot HEXB gene 81,266 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HEXB in the 5q13.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:73,565,741 | UTP15 | UTP15 small subunit processome component of |
| 5:73,626,196 | RGNEF | Rgnef, mouse, homolog of |
| 5:74,000,001 | LINC01157 | Long intergenic noncoding RNA 1157 |
| 5:74,627,409 | ENC1 | Ectodermal-neural cortex 1 |
| 5:74,640,023 | HEXB | Hexosaminidase B, beta polypeptide |
| 5:74,721,206 | GFM2 | Mitochondrial elongation factor G2 |
| 5:74,767,249 | TINP1 | Transform growth factor-beta-inducible nuclear protein 1 |
| 5:74,777,574 | FAM169A | Family with sequence similarity 169, member A |
| 5:75,016,969 | GCNT4 | Glucosaminyl (N-acetyl) transferase 4, core 2 |
| 5:75,068,297 | ANKRD31 | Ankyrin repeat domain-containing protein 31 |
