Genomic coordinate 8:115,408,496
Here I present: “Trichorhinophalangeal Syndrome Type-1”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TRPS1) icd=Q87.1
INTRODUCTION.
Trichorhinophalangeal Syndrome Type-1 (TRPS1) is a genetic disorder characterized by distinctive craniofacial and skeletal abnormalities. The name reflects the primary features: “tricho” refers to hair, “rhino” to the nose, and “phalangeal” to the digits.
Trichorhinophalangeal syndrome type-1 (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS1 patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.
Zinc finger is a small protein structural motif that is by the coordination of one or more zinc ions (Zn2+) which stabilizes the fold. The term zinc finger was originally coined to describe the finger-like appearance of a hypothesized structure from the African clawed frog (Xenopus laevis) transcription factor-IIIA.
There is evidence that trichorhinophalangeal syndrome type-1 is caused by heterozygous mutation in the TRPS1 gene. TRPS1 is a zinc finger transcriptional repressor involved in the regulation of chondrocyte and perichondrium development. TRPS1 is encoded on cytogenetic location 8q23.3 and genomic coordinate 8:115,408,496 . Nine (9) other genes besides TRPS1 in the 8q23.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:109,539,702 | EBAG9 | Estrogen receptor-binding site-associated antigen 9 |
| 8:109,573,978 | GOLSYN | Golgi-localized syntaphilin-related protein |
| 8:109,963,636 | KCNV1 | Potassium channel, voltage-gated, subfamily V, member 1 |
| 8:112,222,928 | CSMD3 | Cub and Sushi multiple domains 3 |
| 8:115,408,496 | TRPS1 | Zinc finger transcription factor TRPS1 |
| 8:116,642,130 | EIF3H | Eukaryotic translation initiation factor 3, subunit H |
| 8:116,700,001 | BMND10 | Bone mineral density quantitative trait locus 10 |
| 8:116,700,001 | BSZQTL3 | Bone size quantitative trait locus 3 |
| 8:116,700,001 | CRCS2 | Colorectal cancer, susceptibility to, 2 |
| 8:116,700,001 | ECA1 | Epilepsy, childhood absence, 1 |
