Here I present: “Nonsyndromic Sensorineural Deafness”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 非綜合徵性感覺神經性耳聾。icd10=H90.5
INTRODUCTION.
Nonsyndromic-progressive sensorineural hearing-loss is an autosomal-dominant disorder (DFNA21). The mean age at onset is 31 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness (DFNA21) in the Dutch population.
There is evidence that autosomal dominant deafness-21 (DFNA21) is caused by heterozygous mutation in the RHO family-interacting cell-polarization regulator-2 (RIPOR2) gene on cytogenetic location 6p22.3 and genomic coordinates 6:24,804,284-25,042,168. The screenshot of the RIPOR2 gene 237,885 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides RIPOR2 in the 6p22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:24,540,141 | KIAA0319 | KIAA0319 gene |
| 6:24,649,979 | TDP2 | Tyrosyl-DNA phosphodiesterase 2 |
| 6:24,667,077 | ACOT13 | Acyl-CoA thioesterase 13 |
| 6:24,774,937 | GMNN | Geminin DNA replication inhibitor |
| 6:24,804,284 | RIPOR2 | RHO family interacting cell polarization regulator 2 |
| 6:25,200,001 | MVCD7 | Microvascular complications of diabetes, susceptibility to, 7 |
| 6:25,200,001 | TFQTL2 | Transferring serum level quantitative trait locus 2 |
| 6:25,279,374 | CARMIL1 | Capping protein regulator and myosin 1 linker 1 |
| 6:25,652,215 | SCGN | Secretagogin |
| 6:25,723,743 | SLC17A1 | Solute carrier family 17, sodium phosphate, member-1 |
