Here I present: “Molybdenum Cofactor Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Molybdenum cofactor deficiency is an autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood.
There is evidence molybdenum cofactor deficiency type-B (MOCODB) is caused by homozygous or compound heterozygous mutation in the molybdenum cofactor synthesis protein-2B (MOCS2) gene on chromosome 5q11.2 and genomic coordinates 5:53,095,679-53,109,757. The screenshot of the MOCS2 gene 14,079 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides molybdenum cofactor synthesis protein-2B (MOCS2) gene on the 5q11.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:51,400,001 | BDPLT9 | Bleeding disorder, platelet-type, 9 |
| 5:52,787,916 | ITGA1 | Integrin, alpha-1 |
| 5:52,787,916 | PELO | Pelota mRNA surveillance and ribosome rescue factor |
| 5:52,989,352 | ITGA2 | Integrin, alpha-2 |
| 5:53,095,679 | MOCS2 | Molybdenum cofactor synthesis-2 |
| 5:53,480,629 | FST | Follistatin |
| 5:53,560,639 | NDUFS4 | NADH-ubiquinone oxidoreductase subunit S4 |
| 5:54,455,699 | HSPB3 | Heat-shock 27kD protein 3 |
| 5:54,517,759 | SNX18 | Sorting nexin 18 |
| 5:54,977,867 | ESM1 | Endothelial cell-specific molecule 1 |
