Here I present: “Combined Pituitary Hormone Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 合并垂体激素缺乏症。(CPHD1).
INTRODUCTION.
Combined pituitary hormone deficiency type-1 (CPHD1) is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.
POU domain, class 4, transcription factor-1 (POU4F1) is a protein that in humans is encoded by the POU4F1 gene. There is evidence combined pituitary hormone deficiency type-1 (CPHD1) is caused by homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on cytogenetic location 3p11.2 and genomic coordinates 3:87,259,404-87,276,584. The screenshot of the POU1F1 gene 17,181 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides POU1F1 in the 3p11.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:81,489,703 | GBE1 | Glycogen branching enzyme |
| 3:84,958,989 | CADM2 | Cell adhesion molecule 2 |
| 3:86,937,973 | VGLL3 | Vestigial-like 3 |
| 3:87,227,309 | CHMP2B | Charged multivesicular body protein 2B |
| 3:87,259,404 | POU1F1 | POU domain, class 1, transcription factor 1 |
| 3:87,792,706 | HTR1F | 5-hydroxytryptamine receptor 1F |
| 3:88,051,950 | CGGBP1 | CGG triplet repeat binding protein 1 |
| 3:89,107,621 | EPHA3 | Ephrin receptor EphA3 (human embryo kinase 1) |
| 3:90,900,001 | ERVK-5 | Endogenous retrovirus group K, member 5 |
| 3:93,873,051 | PROS1 | Protein S, alpha |
