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The mitochondrial COI/tRNASER(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family

Y Ding
Y Ding
, 
B-H Xia
B-H Xia
, 
Y-S Teng
Y-S Teng
, 
G-C Zhuo
G-C Zhuo
 e 
J-H Leng
J-H Leng
   | 29 dic 2017
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Article Category: Original Article
Pubblicato online: 29 dic 2017
Pagine: 43 - 49
DOI: https://doi.org/10.1515/bjmg-2017-0025
Parole chiave
© 2017 Ding Y, Xia B-H, Teng Y-S, Zhuo G-C, Leng J-H, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

A three-generation Han Chinese family with AINHL. Hearing loss individuals are indicated by filled symbols. The arrow denotes the proband. Asterisks denote individuals who have a family history of exposure to amino glycosides.
A three-generation Han Chinese family with AINHL. Hearing loss individuals are indicated by filled symbols. The arrow denotes the proband. Asterisks denote individuals who have a family history of exposure to amino glycosides.

Figure 2

Air conduction audiogram of family members with the mitochondrial C1494T and G7444A pathogenic variants, subject II-4 was used as a control. Symbols: X: left ear, O: right ear.
Air conduction audiogram of family members with the mitochondrial C1494T and G7444A pathogenic variants, subject II-4 was used as a control. Symbols: X: left ear, O: right ear.

Figure 3

Identification G7444A pathogenic variant in the CO1/tRNASer(UCN) gene. Partial sequence chromatograms of COI/tRNASer(UCN) from affected individuals and the healthy control.
Identification G7444A pathogenic variant in the CO1/tRNASer(UCN) gene. Partial sequence chromatograms of COI/tRNASer(UCN) from affected individuals and the healthy control.

Figure 4

Location of deafness-associted mutations in tRNASer(UCN) and adjacent COI. The arrow indicates the A7445G and G7444A pathogenic variants in the precursor of this tRNA and adjacent sequence of COI from wild-type (WT) and mutant (MT).
Location of deafness-associted mutations in tRNASer(UCN) and adjacent COI. The arrow indicates the A7445G and G7444A pathogenic variants in the precursor of this tRNA and adjacent sequence of COI from wild-type (WT) and mutant (MT).

Summary of clinical data for several members of this family

SubjectsI-2II-1II-5III-2II-4
Genderfemalemalefemalemalemale
Age when tested502630139
Age at onset4618251–
Use of aminoglycosideyesnoyesnono
PTA (dB) right ear90901008525
PTA (dB) left ear92851007525
Level of hearing lossprofoundprofoundsevereseverenormal

mtDNA sequence variants in this family with hearing impairment.

GenePositionReplacementConservation

Conservation of amino acid for polypeptides or nucleotide for RNAs in human (H), bovine (B), mouse (M), and Xenopus laevis (X).

Previously Reported

See the online mitochondrial genome database (http://www.mitomap.org).

D-Loop73A>G–yes
152T>C–yes
263A>G–yes
16223C>T–yes
16519T>C–yes
12S rRNA827A>G–yes
1438A>G–yes
1494C>TC/C/C/Cyes
16S rRNA2706A>GA/G/A/Ayes
3010G>AG/G/A/Ayes
ND13497C>T (Ala→Val)–yes
3970C>T–yes
ND24883C>T–yes
CO17444G>A (Term→Lys)–yes
A68860A>G (Thr→Ala)–yes
ND310398A>G (Thr→Ala)–yes
10400C>T–yes
ND411719G>A–yes
ND512705C>T–yes
Cyt b15301G>A–yes
15426A>G (Thr→Ala)T/M/I/Iyes
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Medicine, Basic Medical Science, other
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