Here I present: “Autosomal Dominant Deafness”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 常染色體顯性耳聾。(DFNA27).
INTRODUCTION.
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic hearing loss (HL) have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history.
Autosomal Dominant Deafness type-27 (DFNA27) is characterized by postlingual progressive moderate to profound sensorineural hearing loss.
There is evidence that Autosomal Dominant Deafness type-27 (DFNA27) is caused by heterozygous mutation in the RE1-silencing transcription factor (REST) gene on cytogenetic location 4q12 and genomic coordinates 4:56,907,900-56,935,844. The screenshot of the REST gene 27,945 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides REST in the 4q12 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:56,467,617 | SRP72 | Signal recognition particle, 72kD |
| 4:56,505,209 | ARL9 | ADP ribosylation factor-like GTPase 9 |
| 4:56,647,998 | HOPX | HOP homeobox |
| 4:56,809,860 | SPINK2 | Serine protease inhibitor, Kazal-type, 2 |
| 4:56,907,900 | REST | RE1-silencing transcription factor |
| 4:56,963,350 | NOA1 | Nitric oxide-associated protein 1 |
| 4:56,978,896 | POL2RB | Polymerase (RNA) II (DNA directed) B |
| 4:57,030,773 | IGFBP7 | Insulin-like growth factor-binding protein-7 |
| 4:58,500,001 | AIS4 | Autoimmune disease, susceptibility to, 4 |
| 4:61,200,326 | ADGRL3 | Adhesion G protein-coupled receptor L3 |
