TABLE 2.
PTPRQ mutations with hearing phenotypes in families.
| Genotype | Protein domain | Inheritance pattern | Frequencies of hearing loss | Vestibular dysfunction | Phenotype | Reference |
|---|---|---|---|---|---|---|
| c.4006C > T/c.4006C > T | FN III | Autosomal recessive | Not mentioned | Yes | Hearing loss | Paridhy et al. (2021) |
| c.6881G > A/WT | — | Autosomal dominant | Mid to high frequencies | No | Mild to severe hearing loss | Eisenberger et al. (2018) |
| c.1973T > C/c.4472C > T | FN III | Autosomal recessive | All frequencies | No | Severe to profound hearing loss | Lv et al. (2021) |
| c.5592dup/c.5592dup | FN III | Autosomal recessive | Not mentioned | No | Profound hearing loss | Ammar-Khodja et al. (2015) |
| c.6080dup/c.6080dup | FN III | Autosomal recessive | Not mentioned | No | Profound hearing loss | Ammar-Khodja et al. (2015) |
| c.6881G > A/WT | — | Autosomal dominant | Mid to high frequencies | No | Severe hearing loss | Ozieblo et al. (2019) |
| c.16_17insT/c.2714delA | —/FN III | Autosomal recessive | All frequencies | No | Severe hearing loss | Sang et al. (2015) |
| c.55-2A > G/c.55-2A > G | FN III | Autosomal recessive | Mid to high frequencies | No | Severe to profound hearing loss | Mahmood et al. (2021) |
| c.2599T > C/c.2599T > C | FN III | Autosomal recessive | Not mentioned | Not mentioned | Hearing loss | Talebi et al. (2018) |
| c.3125A > G/c.5981A > G | FN III/— | Autosomal recessive | All frequencies | No | Moderate to profound hearing loss | Gao et al. (2015) |
| c.1491T > A/c.1491T > A | — | Autosomal recessive | All frequencies | Yes | Profound hearing loss | Schraders et al. (2010) |
| c.1369A > G/c.1369A > G | — | Autosomal recessive | All frequencies | Yes | Moderate hearing loss | Schraders et al. (2010) |
| c.1285C/T/c.1285C/T | FN III | Autosomal recessive | All frequencies | Not mentioned | Moderate to severe hearing loss | Shahin et al. (2010) |
| c.1261C > T/c.1261C > T | FN III | Autosomal recessive | Mid to high frequencies | Yes | Profound hearing loss | Sakuma et al. (2015) |
| c.166C > G/c.1261C > T | FN III | Autosomal recessive | All frequencies | No | Profound hearing loss | Sakuma et al. (2015) |
| c.6453 + 3delA/c.4640T > C | —/FN III | Autosomal recessive | All frequencies | No | Moderate hearing loss | Sakuma et al. (2015) |
| c.1057delC/c.1057delC | FN III | Autosomal recessive | Not mentioned | Not mentioned | Hearing loss | Yang et al. (2021) |
Hearing loss was classified as mild (20–40 dB), moderate (41–60 dB), severe (61–90 dB), or profound (>90 dB); low frequencies mean 125–500 Hz; medium frequencies mean 500–2000 Hz; high frequencies mean 2000–8000 Hz; FN III, fibronectin type III protein domain.