Genomic coordinate 8:38,411,143
Here I present: “Pfeiffer Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FGFR1) 菲弗綜合症。icd10=Q87.0
INTRODUCTION.
Pfeiffer syndrome is a genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. Pfeiffer syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet.
Three (3) subtypes of Pfeiffer syndrome have been identified.
Type-1, the classic Pfeiffer syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly.
Type-2 consists of cloverleaf skull with Pfeiffer syndrome hands and feet, together with ankylosis of the elbows.
Type-3 is similar to type-2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type-3.
Early demise is characteristic of Pfeiffer syndrome type-2 and type-3.
There is evidence that Pfeiffer syndrome can be caused by heterozygous mutations in the Fibroblast growth factor receptor-1 gene (FGFR1) on cytogenetic location 8p11.23 and genomic coordinate 8:38,411,143-38,468,635. The screenshot of the FGFR1 gene 57,493 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FGFR1 in the 8p11.23 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:38,231,585 | DDHD2 | DDHD domain-containing protein 2 |
| 8:38,263,130 | PLPP5 | Phospholipid phosphatase 5 |
| 8:38,269,704 | NSD3 | Nuclear receptor-binding SET protein 3 |
| 8:38,382,431 | LETM2 | Leucine zipper/EF-hand transmembrane protein 2 |
| 8:38,411,143 | FGFR1 | Fibroblast growth factor receptor-1 |
| 8:38,728,582 | TACC1 | Transforming, acidic, coiled-coil protein-1 |
| 8:38,901,346 | PLEKHA2 | Pleckstrin homology domain A, member 2 |
| 8:38,974,228 | HTRA4 | HTRA serine peptidase 4 |
| 8:38,988,808 | TM2D2 | TM2 domain-containing protein 2 |
| 8:38,996,973 | ADAM9 | ADAM metallopeptidase domain 9 |
