Here I present: “Dental-anomalies & Short-stature”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DASS) 牙齒異常和身材矮小。icd10=K00.2
INTRODUCTION.
Dental-anomalies & short-stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel. Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms.
There is evidence that dental anomalies and short stature (DASS) is caused by homozygous or compound heterozygous mutation in the LTBP3 gene on cytogenetic location 11q13.1 and genomic coordinates 11:65,538,559-65,558,359. The screenshot of the LTBP3 gene 19,801 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides LTBP3 in the 11q13.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 11:65,375,192 | SLC25A45 | Solute carrier family 25, member 45 |
| 11:65,422,798 | NEAT1 | Noncoding nuclear-enriched abundant transcript 1 |
| 11:65,497,738 | MALAT1 | Metastasis-associated lung adenocarcinoma transcript 1 |
| 11:65,525,083 | SCYL1 | SCY1-like 1 |
| 11:65,538,559 | LTBP3 | Latent transforming growth factor beta binding protein-3 |
| 11:65,570,477 | ZNRD2 | Zinc ribbon domain containing 2 |
| 11:65,572,538 | FAM89B | Family with sequence similarity 89, member B |
| 11:65,576,053 | EHBP1L1 | EH domain-binding protein 1-like 1 |
| 11:65,592,836 | KCNK7 | Potassium channel, subfamily K, member 7 |
| 11:65,597,757 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 |
