Here I present: “Craniometaphyseal Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 顱骨發育不良。(CMD).
INTRODUCTION.
Craniometaphyseal dysplasia (CMD) is a skeletal disorder that results from a mutation in the ANKH transmembrane pyrophosphate transporter (ANKH) gene. The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs.
Craniometaphyseal dysplasia (CMD) is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy.
There is evidence that autosomal dominant craniometaphyseal dysplasia (CMD) 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 5p15.2 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 |
