Here I present: Chondrocalcinosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 軟骨鈣化症。(CCAL2).
INTRODUCTION.
Chondrocalcinosis (cartilage calcification) is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibrocartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks (pseudogout) or chronic arthritis. It can be detected radiographically.
Chondrocalcinosis occurs in 3 forms: primary hereditary form (CCAL2); form associated with metabolic disorders (hyperparathyroidism, hemochromatosis, and hypomagnesemia); and sporadic form (which may in some cases represent the hereditary form).
There is evidence chondrocalcinosis type-2 (CCAL2) is caused by heterozygous mutation in the ANKH transmembrane pyrophosphate transporter (ANKH) gene on cytogenetic location 5p15.2 and genomic coordinates 5:14,704,800-14,871,778. The screenshot of the ANKH gene 166,979 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ANKH in the 5.p15.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:12,574,857 | LINC01194 | Long intergenic noncoding RNA 1194 |
| 5:13,690,328 | DNAH5 | Dynein, axonemal, heavy chain 5 |
| 5:14,143,342 | TRIO | Triple functional domain |
| 5:14,664,718 | OTULIN | OTU deubiquitinase with linear linkage specificity |
| 5:14,704,800 | ANKH | ANKH inorganic pyrophosphate transport regulator |
| 5:15,000,001 | MYP19 | Myopia 19, autosomal dominant |
| 5:15,000,001 | PVNH3 | Periventricular nodular heterotopia 3 |
| 5:15,500,180 | FBXL7 | F-box and leucine-rich repeat protein 7 |
| 5:15,935,182 | MIR887 | Micro RNA 887 |
| 5:16,067,139 | MARCH11… | Membrane-associated RING-CH finger protein 11 |
