Here I present: “Waardenburg Syndrome (type-2B)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. ウォーデンブルク症候。(WS2B) 群瓦登堡综合症。
INTRODUCTION.
Waardenburg syndrome (WS) is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome (WS) have normal hearing, moderate to profound hearing loss can occur in one or both ears.
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) ysymptoms such as developmental delay and muscle tone abnormalities.
Waardenburg syndrome type-II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and (WS2B) maps to cytogenetic location 1p21-p13.3 and genomic coordinates 1:94,300,001-111,200,000 . The screenshot of the WS2B gene 16,900,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides WS2B are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:93,885,199 | GCLM | Glutamate-cysteine ligase, modifier subunit |
| 1:93,992,834 | ABCA4 | ATP-binding transporter, retina-specific |
| 1:94,168,905 | ARHGAP29 | RHO GTPase-activating protein 29 |
| 1:94,300,001 | STQTL7 | Stature quantitative trait locus 7 |
| 1:94,300,001 | WS2B | Waardenburg syndrome, type 2B |
| 1:94,385,131 | ABCD3 | ATP-binding cassette, subfamily D, 3 |
| 1:94,529,173 | F3 | Coagulation factor III |
| 1:94,820,357 | SLC44A3 | Solute carrier family 44, member 3 |
| 1:94,896,957 | CNN3 | Calponin 3, acidic |
| 1:94,974,405 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase |
