Genomic coordinate 7:74,028,173
Here I present: “Supravalvular Aortic Stenosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SVAS) 瓣膜上主動脈狹窄。icd10=Q25.3
INTRODUCTION.
Supravalvular aortic stenosis (SVAS) is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least common type of aortic stenosis. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.
There is evidence supravalvular aortic stenosis (SVAS) is caused by heterozygous mutation in the gene encoding elastin (ELN) on cytogenetic location 7q11.23 and genomic coordinates 7:74,028,173-74,069,907. The screenshot of the ELN gene 41,735 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ELN in the 7q11.23 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:73,768,997 | CLDN3 | Claudin-3 |
| 7:73,830,996 | CLDN4 | Claudin 4 |
| 7:73,834,590 | WBSCR27 | Williams-Beuren syndrome chromosome region 27 |
| 7:73,860,848 | WBSCR28 | Williams-Beuren syndrome chromosome region 28 |
| 7:74,028,173 | ELN | Elastin |
| 7:74,083,804 | LIMK1 | LIM domain kinase 1 |
| 7:74,174,356 | EIF4H | Eukaryotic translation initiation factor 4H |
| 7:74,191,198 | MIR590 | Micro RNA 590 |
| 7:74,210,006 | LAT2 | Linker for activation of T cells family, member 2 |
| 7:74,231,502 | RFC2 | Replication factor C2 |
