A8343G

# **General Information**

| **Position** | **8343** | **Variant** | **m.8343A\>G** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 4\.70% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.8343A\>G** variant in MT\-TK has been reported in 3 pedigrees. To date, 8 carriers have been reported. Homoplasmy was reported in 7/8 carriers (87\.5%), and 8/8 carriers (100%) were affected. The main clinical manifestations among affected carriers included metabolic syndrome, profound hearing loss, r78 dB., severe hearing loss, type 2 diabetes mellitus, 107 dB, PTA 102, PTA L80, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8343 | m.8343A\>G | A8343G\-F1 | China | Deafness | 0 | 0 | 2015 | [25968158](https://pubmed.ncbi.nlm.nih.gov/25968158/) | Original label WZ205\-III\-1 |
| 2 | 8343 | m.8343A\>G | [A8343G\-F2](https://mitofam.com/doc/2186/) | China | Polycystic ovary syndrome and metabolic syndrome | 2 | 4 | 2018 | [29155328](https://pubmed.ncbi.nlm.nih.gov/29155328/) | / |
| 3 | 8343 | m.8343A\>G | [A8343G\-F3](https://mitofam.com/doc/2187/) | China | Hearing loss | 0 | 2 | 2020 | [32400865](https://pubmed.ncbi.nlm.nih.gov/32400865/) | Original family label HZD503 |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8343 | m.8343A\>G | A8343G\-F1 | A8343G\-F1\-III1 | Uninf | M | Y | Y | ND | 17 (onset 1\) | Detected | / | / | / | Profound hearing loss; PTA 102/107 dB | Original label WZ205\-III\-1; co\-occurs with 7444G\>A and 1555A\>G; aminoglycoside exposure. |
| 2 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-II1 | Fam | M | N | Y | A | 66 | Homo | / | / | / | Metabolic syndrome; type 2 diabetes mellitus | Carrying C3275T and T4363C. |
| 3 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-II2 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Metabolic syndrome; hypertension | Carrying C3275T and T4363C. |
| 4 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-II3 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Metabolic syndrome; type 2 diabetes mellitus | Carrying C3275T and T4363C. |
| 5 | 8343 | m.8343A\>G | A8343G\-F2 | A8343G\-F2\-III1 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Polycystic ovary syndrome; abnormal menstruation | Carrying C3275T and T4363C. |
| 6 | 8343 | m.8343A\>G | A8343G\-F3 | A8343G\-F3\-II1 | Fam | F | N | Y | A | 77 | Homo | / | / | / | Severe hearing loss; PTA L88/R78 dB. | Original carrier label II\-10; carrying 12S rRNA C1494T; aminoglycoside exposure. |
| 7 | 8343 | m.8343A\>G | A8343G\-F3 | A8343G\-F3\-III1 | Fam | F | Y | Y | A | 41 | Homo | / | / | / | Profound hearing loss; PTA L80/R91 dB. | Original carrier label III\-9; proband; carrying 12S rRNA C1494T; aminoglycoside exposure. |
| 8 | 8343 | m.8343A\>G | A8343G\-F3 | A8343G\-F3\-IV1 | Fam | F | N | Y | A | 16 | Homo | / | / | / | Severe hearing loss; PTA L90/R78 dB. | Original carrier label IV\-4; carrying 12S rRNA C1494T; no aminoglycoside exposure. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).