Here I present: “Waardenburg Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 瓦登堡综合症。
INTRODUCTION.
Waardenburg syndrome is a group of genetic conditions characterized by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung’s disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities.
There is evidence that Waardenburg syndrome type-1 and type-3 are caused by heterozygous mutation in the PAX3 gene on cytogenetic location 2q36.1 and genomic coordinates 2:222,199,887-222,298,998 . The screenshot of the PAX3 gene 99,112 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PAX3 in the 2q36.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:220,700,001 | ACRPV | Acropectorovertebral dysplasia |
| 2:220,700,001 | IGAN2 | IgA nephropathy, susceptibility to, 2 |
| 2:220,700,001 | SPDA3 | Spondyloarthropathy, susceptibility to, 3 |
| 2:221,418,027 | EPHA4 | Ephrin receptor EphA4 |
| 2:222,199,887 | PAX3 | Paired box homeotic gene-3 |
| 2:222,423,988 | SGPP2 | Sphingosine-1-phosphate phosphatase 2 |
| 2:222,566,899 | FARSB | Phenylalanine-tRNA synthetase beta |
| 2:222,671,658 | MOGAT1 | Monoacylglycerol O-acyltransferase 1 |
| 2:222,861,036 | ACSL3 | Acyl-CoA synthetase long-chain family 3 |
| 2:223,052,190 | KCNE4 | Potassium channel, voltage-gated, ISK, |
