Here I present: “Stickler Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=Q87.5
INTRODUCTION.
Stickler syndrome (arthro-ophthalmodystrophy) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy type-II. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar Stickler in 1965.
There is evidence that Stickler syndrome type-IV is caused by homozygous mutation in the collagen-IX, alpha-1 (COL9A1) gene on cytogenetic location 6q13 and genomic coordinates 6:70,215,061-70,303,084. The screenshot of the COL9A1 88,024 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides COL9A1 in the 6q13 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:69,200,001 | OTSC7 | Otosclerosis 7 |
| 6:69,200,001 | SCZD5 | Schizophrenia susceptibility locus, chromosome 6q-related |
| 6:69,674,010 | LMBRD1 | LMBR1 domain-containing protein 1 |
| 6:69,866,556 | COL19A1 | Collagen XIX, alpha-1 polypeptide |
| 6:70,215,061 | COL9A1 | Collagen IX, alpha-1 polypeptide |
| 6:70,566,930 | SDHAF4 | Succinate dehydrogenase complex assembly factor 4 |
| 6:70,667,883 | SMAP1 | Small ADP-ribosylation factor GTPase-activating protein 1 |
| 6:70,856,679 | GLCATS | UDP-glucuronyltransferase S |
| 6:71,288,811 | OGFRL1 | Opioid growth factor receptor-like protein 1 |
| 6:71,403,551 | MIR30A | Micro RNA 30A |
