Copyright
©The Author(s) 2023.
World J Clin Cases. Sep 6, 2023; 11(25): 5962-5969
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5962
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5962
Table 1 Summary of the identified DFNA11 variants
Mutation | Exon | Structure | Patient number | Age of onset (yr) | Audiogram | Vestibular symptoms | Family origin | Ref. |
c.2656-2664del/A886-K888Del | 22 | Coiled coil | 8/19 | 12-16 | Flat/sloping | Absent | Japan | [8] |
c.652G>A/p.D218N | 7 | Motor domain | 11/29 | 20-47 | Flat/sloping | Absent | China | [13] |
c.689C>T/p.A230V | 7 | Motor domain | 1 (sporadic case) | 4 | U-shaped | Absent | Japan | [16] |
c.689C>T/p.A230V | 7 | Motor domain | 9/18 | Mean 6-7 | Flat/sloping | Bilateral areflexia | Italy | [17] |
c.1373A>T/p.N458I | 13 | Motor domain | 11/26 | 4-43 | Ascending-flat-sloping | Vertigo and unsteady walking | Netherlands | [18] |
c.2003G>A/p.R668H | 17 | Motor domain | 9/15 | 17-45 | Ascending-flat-sloping | - | China | [19] |
c.2011G>A/p.G671S | 17 | Motor domain | 9/23 | 10-39 | Ascending-flat-sloping | Absent | China | [13] |
c.2011G>A/p.G671S | 17 | Motor domain | 11/29 | 13-40 | Flat/sloping | Absent | China | [20] |
c.2164G>C/p.G722R | 17 | Motor domain | 13/43 | 20-30 | Ascending-flat-sloping | Absent | United States | [21] |
c.2557C>T/p.R853C | 21 | IQ 5 | 5/12 | 1 mo to puberty | - | Mild dysfunction | Germany | [22] |
c.2558G>A/p.A853H | 21 | IQ 5 | 12/23 | 1-33 | Flat/sloping | Absent | Japan | [14] |
c.1531G>A/p.D511N | 13 | Motor domain | 5/12 | 35-42 | Flat/sloping | Absent | China | This report |
- Citation: Xia CF, Yan R, Su WW, Liu YH. Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature. World J Clin Cases 2023; 11(25): 5962-5969
- URL: https://www.wjgnet.com/2307-8960/full/v11/i25/5962.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v11.i25.5962