Here I present: “Treacher-Collins Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 特雷瑟-柯林斯綜合症。(TCOF1) icd10=Q75.4
INTRODUCTION.
Treacher-Collins syndrome (TCS) is a disorder of craniofacial development. The features include downslanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present.
Treacher-Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence.
There is evidence Treacher-Collins syndrome type-1 (TCS1) is caused by heterozygous mutation in the ‘treacle‘ gene (TCOF1) on cytogenetic location 5q32-q33.1 and genomic coordinates 5:150,357,697-150,400,293. The screenshot of the TCOF1 gene 42,597 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TCOF1 in the 5q32-q33.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:150,166,778 | CDX1 | Caudal type homeobox transcription factor 1 |
| 5:150,190,062 | SLC6A7 | Solute carrier family 6 member 7 |
| 5:150,219,491 | CAMK2A | Calcium/calmodulin-dependent protein kinase II-alpha |
| 5:150,296,343 | ARSI | Arylsulfatase I |
| 5:150,357,697 | TCOF1 | Treacle |
| 5:150,400,001 | FECD5 | Corneal dystrophy, Fuchs endothelial, 5 |
| 5:150,401,639 | CD74 | CD74 antigen |
| 5:150,442,635 | RPS14 | Ribosomal protein S14 |
| 5:150,497,779 | NDST1 | N-deacetylase/N-sulfotransferase |
| 5:150,586,010 | SYNPO | Synaptopodin |
