Here I present: “Ehlers-Danlos Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (EDS) 埃勒斯-丹洛斯綜合症。icd10=Q79.60
INTRODUCTION.
Ehlers-Danlos syndrome (kyphoscoliotic-type-2) is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine.
There is evidence that Ehlers-Danlos syndrome (kyphoscoliotic-type-2) is caused by homozygous or compound heterozygous mutation in the FKBP14 gene on cytogenetic location 7p14.3 and genomic coordinates 7:30,005,923-30,026,702. The screenshot of the gene 20,780 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FKBP14 in the 7p14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:29,146,591 | CHN2 | Chimerin 2 (GTPase-activating protein, rho, 3) |
| 7:29,563,835 | PRR15 | Proline-rich protein 15 |
| 7:29,806,508 | WIPF3 | WAS/WASL-interacting protein family, member 3 |
| 7:29,920,103 | SCRN1 | Secernin 1 |
| 7:30,005,923 | FKBP14 | FK506-binding protein 14 (Ehlers-Danlos syndrome-2) |
| 7:30,028,412 | FAPP2 | Phosphatidylinositol 4-phosphate adaptor protein 2 |
| 7:30,134,986 | MTURN | Maturin, neural protenitor differentiation regulator homolog |
| 7:30,284,597 | ZNRF2 | Zinc finger and ring finger protein 2 |
| 7:30,424,527 | NOD1 | Nucleotide-binding oligomerization domain protein 1 |
| 7:30,496,621 | GGCT | Gamma-glutamylcyclotransferase |
