Here I present: “Van der Woude Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966.ヴァン・デル・ウーデ症候群。(VWS). 范德沃德症候群。
INTRODUCTION.
Van der Woude syndrome (VWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CLP), and cleft palate only (CPO).
VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and (CPO) within the same family.
There is evidence der Woude syndrome type-1 (VWS1) is caused by heterozygous mutation in the gene encoding interferon regulatory factor-6 (IRF6) on cytogenetic location 1q32.2 and genomic coordinates 1:209,785,617-209,806,142 . The screenshot of the IRF6 gene 20,526 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides IRF6 in the 1q32.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:209,614,870 | LAMB3 | Laminin, beta-3 |
| 1:209,675,412 | G0S2 | G0/G1 switch gene 2 |
| 1:209,686,179 | HSD11B1 | Hydroxysteroid, 11-beta, dehydrogenase 1 |
| 1:209,756,053 | TRAF3IP | TRAF3-interacting protein |
| 1:209,785,617 | IRF6 | Interferon regulatory factor 6 |
| 1:209,827,972 | UTP25 | UTP25 small subunit processor component |
| 1:209,938,217 | SYT14 | Synaptotagmin 14 |
| 1:210,327,328 | HHAT | Hedgehog acyltransferase |
| 1:210,678,314 | KCNH1 | Potassium volt-gate channel subfamily H 1 |
| 1:211,259,366 | RCOR3 | REST corepressor 3 |
