Here I present: “Congenital Contractural Arachnodactyly”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 先天性收縮性頹關節 。icd10=Q87.40 (FBN2).
INTRODUCTION.
Congenital contractural arachnodactyly (CCA) is an autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes.
There is evidence that congenital contractural arachnodactyly (CCA) is caused by heterozygous mutation in the gene encoding fibrillin type-2 (FBN2) on cytogenetic location 5q23.3 and genomic coordinates 5:128,257,909-128,538,245. The screenshot of the FBN2 gene 280,337 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FBN2 in the 5q23.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:126,867,714 | MARCH3… | Membrane-associated RING-CH finger protein 3 |
| 5:127,229,300 | MEGF10 | Multiple epidermal growth factor-like domains 10 |
| 5:127,649,082 | KABE | Cortexin 3 |
| 5:128,083,766 | SLC12A2 | Solute carrier family 12 member 2 |
| 5:128,257,909 | FBN2 | Fibrillin-2 |
| 5:128,965,488 | SLC27A6 | Solute carrier family 27 (fatty acid transporter), member 6 |
| 5:129,094,749 | ISOC1 | Isochorismatase domain-containing protein 1 |
| 5:129,460,298 | ADAMTS19 | ADAM metallopeptidase thrombospondin type 1 motif, 19 |
| 5:129,748,094 | MINAR2 | Membrane integral NOTCH2-associated receptor 2 |
| 5:129,903,979 | CHSY3 | Chondroitin sulfate synthase 3 |
