Here I present: “Sialidosis Types-1&2”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 絲狀體病1&2型。icd10=E77.1
INTRODUCTION.
Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked (‘bound’) to a variety of oligosaccharides and/or glycoproteins. The sialidoses are distinct from the sialurias in which there is storage and excretion of ‘free’ sialic acid, rather than ‘bound‘ sialic acid; neuraminidase activity in sialuria is normal or elevated.
There is evidence that sialidosis types-1&2 are caused by homozygous or compound heterozygous mutation in the gene encoding neuraminidase (NEU1) on cytogenetic location 6p21.33 and genomic coordinates 6:31,857,659-31,862,821. The screenshot of the the NEU1 gene 5,163 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides NEU1 in the 6p21.33 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:31,809,619 | HSPA1L | Heat-shock 70kD protein-like-1 |
| 6:31,815,543 | HSPA1A | Heat-shock 70kD protein-1A |
| 6:31,827,738 | HSPA1B | Heat-shock 70kD protein-1B |
| 6:31,834,916 | SNHG32 | Small nucleolar RNA host gene 32 |
| 6:31,857,659 | NEU1 | Neuraminidase 1 (lysosomal sialidase; sialidase 1) |
| 6:31,863,192 | SLC44A4 | Solute carrier family 44, member 4 |
| 6:31,879,759 | EHMT2 | Euchromatic histone-lysine N-methyltransferase 2 |
| 6:31,897,783 | C2 | Complement component-2 |
| 6:31,946,095 | CFB | Complement factor B |
| 6:31,952,087 | NELFE | Negative elongation factor complex, member E |
