Here I present: “Wrinkly Skin Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 皮肤发炎综合征。(WSS).
INTRODUCTION.
Wrinkly skin syndrome (WSS) is a genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events.
Wrinkly skin syndrome (WSS) evolves during early childhood and includes generalized and excessive skin wrinkling, dental problems, herniae, foot deformities, hip dislocations, growth retardation, and a large anterior fontanel. The facial gestalt is characterized by a broad nasal bridge, hypertelorism, and downslanting palpebral fissures.
There is evidence that wrinkly skin syndrome (WSS) are caused by homozygous or compound heterozygous mutations in the ATP6V0A2 gene on cytogenetic location 12q24.31 and genomic coordinates 12:123,712,353-123,761,755 . The screenshot of the ATP6V0A2 gene 49,403 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ATP6V0A2 in the 12q24.31 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 12:123,602,099 | DDX55 | DEAD-box helicase 55 |
| 12:123,620,406 | EIF2B1 | Eukaryote translate initiation factor 2B, unit 1 |
| 12:123,633,829 | GTF2H3 | General transcription factor IIH, polypeptide 3 |
| 12:123,671,113 | TCTN2 | Tectonic family, member 2 |
| 12:123,712,353 | ATP6V0A2 | ATPase, H+ transporting, V0 subunit A2 |
| 12:123,762,301 | DNAH10 | Dynein, axonemal, heavy chain 10 |
| 12:123,973,215 | ZNF664 | Zinc finger protein 664 |
| 12:124,289,164 | RFLNA | Refilin A |
| 12:124,324,415 | NCOR2 | Nuclear receptor corepressor 2 |
| 12:124,776,856 | SCARB1 | Scavenger receptor class B, member 1 |
