Genomic coordinate 8:99,013,274
Here I present: “Cohen Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 科恩綜合症。 icd10=Q87.89
INTRODUCTION.
Cohen syndrome is an autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.
Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia.
Vacuoles are membrane-bound organelles that can be found in both animals and humans. In a way, they’re specialized lysosomes. That is to say that their function is really to handle waste products, and by handle, mean take in waste products and also get rid of waste products. Sometimes the waste product is water, and therefore a vacuole would have as its function to maintain the balance of water inside and outside a cell. Sometimes a vacuole’s function is to get rid of harmful toxins or to clear the extracellular space of those harmful toxins by bringing them into the cell for conversion; for chemical conversion into more safe compounds. The vacuoles are quite common in animals, and humans have some of those vacuoles as well. But vacuole also has a more generic term, meaning a membrane-bound organelle that’s lysosome-like.
There is evidence that some patients with Cohen syndrome type-1 (COH1) have homozygous or compound heterozygous mutations in the COH1 gene (VPS13B) vacuolar protein sorting-12 homolog-B on cytogenetic location 8q22.2 and genomic coordinates 8:99,013,274-99,877,580. The screenshot of the VPS13B gene 864,307 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides VPS13B in the 8q22.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:98,117,293 | POP1 | POP1 homolog, ribonuclease P/MRP subunit |
| 8:98,343,975 | STK3 | Serine/threonine protein kinase 3 |
| 8:98,426,958 | KCNS2 | Potassium voltage-gate channel, delay-rectifier S2 |
| 8:98,944,442 | OSR2 | Odd-skipped-related 2 |
| 8:99,013,274 | VPS13B | Vacuolar protein sorting 12 homolog B |
| 8:99,877,865 | COX6C | Cytochrome c oxidase, subunit VIc |
| 8:99,960,936 | RGS22 | Regulator of G protein signaling 22 |
| 8:100,133,351 | FBXO43 | F-box only protein 43 |
| 8:100,150,636 | POLR2K | Polymerase II, RNA, subunit K |
| 8:100,158,038 | SPAG1 | Sperm-associated antigen-1 |
