Genomic coordinate 8:116,700,001
Here I present: “Langer Giedion Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (LGS) 蘭格·吉德恩綜合症。icd10=Q87.5
INTRODUCTION.
Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present.
There is evidence Langer-Giedion syndrome (LGS) is a contiguous gene deletion syndrome on cytogenetic location 8q24.11, involving loss of functional copies of the trichorhinophalangeal syndrome type-II (TRPS2) gene.
The screenshot of the TRPS2 gene encoded on cytogenetic location 8q24.11-q24.13 and genomic coordinates 8:116,700,001-126,300,000 is 9,600,000 bp (base pairs) of DNA sequence length shown BELOW. Nine (9) other genes besides TRPS2 in the 8q24.11 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:116,700,001 | EIG1 | Epilepsy, idiopathic generalized, susceptibility to 1 |
| 8:116,700,001 | HPC10 | Prostate cancer, hereditary, 10 |
| 8:116,700,001 | HPV18I1 | Human papillomavirus type 18 integration site-1 |
| 8:116,700,001 | THM | Tibial hemimelia |
| 8:116,700,001 | TRPS2 | Trichorhinophalangeal syndrome, type II |
| 8:116,845,934 | RAD21 | RAD21 cohesin complex component |
| 8:116,938,207 | AARD | Alanine- and arginine-rich domain-containing protein |
| 8:116,950,217 | SLC30A8 | Solute carrier family 30 (zinc transporter), member 8 |
| 8:117,520,713 | MED30 | Mediator complex subunit 30 |
| 8:117,794,490 | EXT1 | Exostosin 1 |
