Here I present: “Autosomal Recessive Deafness”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MET) 常染色體隱性耳聾。icd10=H90.3
INTRODUCTION.
MET is a receptor tyrosine kinase whose biologic effects are triggered by stimulation of its only ligand, hepatocyte growth factor (HGF). HGF-MET signaling plays a vital role in regulating development of skeletal muscle, placenta, and liver during embryogenesis.
There is evidence that autosomal recessive deafness type-97 is caused by homozygous mutation in the MET protooncogene: receptor tyrosine kinase (MET) gene on cytogenetic location 7q31.2 and genomic coordinates 7:116,672,196-116,798,377. The screenshot of the MET gene 126,182 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MET in the 7q31.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:115,935,152 | TFEC | Transcription factor EC |
| 7:116,210,539 | TES | Testin |
| 7:116,499,738 | CAV2 | Caveolin-2 |
| 7:116,525,009 | CAV1 | Caveolin-1 |
| 7:116,672,196 | MET | MET protooncogene, receptor tyrosine kinase |
| 7:116,862,587 | CAPZA2 | Capping protein (actin filament) muscle Z-line, alpha 2 |
| 7:116,953,501 | ST7 | Suppressor of tumorigenicity 7 (breast) |
| 7:117,275,451 | WNT2 | Wingless-type MMTV integration site family, member 2 |
| 7:117,363,222 | ASZ1 | Ankyrin repeat, SAM, and basic leucine zipper 1 |
| 7:117,480,025 | CFTR | Cystic fibrosis transmembrane conductance regulator |
