Case Report
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
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-K888Del22Coiled coil8/1912-16Flat/slopingAbsentJapan[8]
c.652G>A/p.D218N7Motor domain11/2920-47Flat/slopingAbsentChina[13]
c.689C>T/p.A230V7Motor domain1 (sporadic case)4U-shapedAbsentJapan[16]
c.689C>T/p.A230V7Motor domain9/18Mean 6-7Flat/slopingBilateral areflexiaItaly[17]
c.1373A>T/p.N458I13Motor domain11/264-43Ascending-flat-slopingVertigo and unsteady walkingNetherlands[18]
c.2003G>A/p.R668H17Motor domain9/1517-45Ascending-flat-sloping-China[19]
c.2011G>A/p.G671S17Motor domain9/2310-39Ascending-flat-slopingAbsentChina[13]
c.2011G>A/p.G671S17Motor domain11/2913-40Flat/slopingAbsentChina[20]
c.2164G>C/p.G722R17Motor domain13/4320-30Ascending-flat-slopingAbsentUnited States[21]
c.2557C>T/p.R853C21IQ 55/121 mo to puberty-Mild dysfunctionGermany[22]
c.2558G>A/p.A853H21IQ 512/231-33Flat/slopingAbsentJapan[14]
c.1531G>A/p.D511N13Motor domain5/1235-42Flat/slopingAbsentChinaThis report