A8344G-F28

**Figure 1\. Pedigree diagram for family A8344G\-F28\.**

![](/media/202607/A8344G-F28-pedigree_20260701023958505677.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8344 | m.8344A\>G | A8344G\-F28 | Sweden | MERRF spectrum; multiple symmetric lipomatosis/senile dementia noted in some maternal relatives | 15 | 7 | 1992 | [1463006](https://pubmed.ncbi.nlm.nih.gov/1463006/) | Family A; G/H from Figure 1 maternal\-line eligibility; branch\-stop negatives included where eligible. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F28 from Sweden with merrf spectrum; multiple symmetric lipomatosis/senile dementia noted in some maternal relatives. The pedigree record reported 15 unaffected and 7 affected maternal relatives, and the carrier table includes 23 listed carriers. Homoplasmy was reported in 0/23 listed carriers; 8/23 carriers were affected, and the main clinical manifestation among affected carriers was dementia and hearing loss, senile dementia, hearing loss, hearing loss and large lipomas, slight lower\-extremity ataxia, multiple symmetric lipomas, no neuromuscular signs, merrf with myoclonus.

# 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 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II4 | Fam | F | N | Y | ND | 86 | 33% lymphocytes | / | / | / | Dementia and hearing loss | Figure\-positive carrier; counted in H |
| 2 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II5 | Fam | M | N | Y | ND | 85 | 33% lymphocytes | / | / | / | Dementia and hearing loss | Carrier but male branch does not extend mtDNA eligibility to children |
| 3 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II6 | Fam | F | N | Y | ND | 83 | 10% lymphocytes | 14% | / | 7%(F) | Senile dementia/hearing loss | Table 2/3 multi\-tissue carrier. Removed from Clinical Features: Senile dementia/hearing loss; low\-level carrier |
| 4 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II2 | Fam | F | N | N | ND | 90 | 0 | / | / | / | Healthy at 90 | Eligible negative\-tested child under inferred\-positive mother; branch stop |
| 5 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III11 | Fam | M | N | N | ND | 60 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested child of carrier II\-4; branch stop |
| 6 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III12 | Fam | M | N | N | ND | 65 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested child of carrier II\-4; branch stop |
| 7 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III13 | Fam | F | N | N | ND | 62 | 28% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 8 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III14 | Fam | F | N | N | ND | 59 | 14% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 9 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III15 | Fam | F | N | N | ND | 59 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested child; branch stop |
| 10 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III21 | Fam | F | N | Y | ND | 59 | 73% lymphocytes | / | / | / | Hearing loss and large lipomas | Figure\-positive carrier |
| 11 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III23 | Fam | M | N | N | ND | 48/58 reported in tables | 0 | 0 | / | 0%(F) | No listed clinical features | Eligible negative\-tested child of carrier II\-6; branch stop |
| 12 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV7 | Fam | F | N | N | ND | 35 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested descendant; branch stop |
| 13 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV9 | Fam | F | N | Y | ND | 29 | 72% lymphocytes | / | / | / | Slight lower\-extremity ataxia | Figure\-positive carrier |
| 14 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV10 | Fam | F | N | N | ND | 28 | 49% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 15 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV11 | Fam | F | N | N | ND | 24 | 15% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 16 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV13 | Fam | F | N | N | ND | 32 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested descendant; branch stop |
| 17 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV14 | Fam | F | N | N | ND | 31 | 54% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 18 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV15 | Fam | M | N | N | ND | 37 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested descendant; branch stop |
| 19 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV21 | Fam | F | N | Y | ND | 37 | 72% lymphocytes | 80% | / | 62%(F) | Multiple symmetric lipomas; no neuromuscular signs | Mother of proband |
| 20 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V1 | Fam | M | Y | Y | ND | 16 | 43% at 13 y; 88% at 15 y | 94% at 10/13 y; 95% at 15 y | / | 41%(F) at 15 y | MERRF with myoclonus, seizures, dementia, ataxia, spasticity, optic atrophy, hearing loss | Family A proband |
| 21 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V2 | Fam | M | N | Y | ND | 13 | 77% lymphocytes | 92% | / | 66%(F) | Exercise\-induced muscle pain/fatigue; myopathy | Brother of proband |
| 22 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V3 | Fam | M | N | N | ND | 5 | 74% lymphocytes | / | / | / | No clinical features reported | Figure\-positive child of carrier IV\-21 |
| 23 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V4 | Fam | M | N | N | ND | 3 | 46% lymphocytes | / | / | / | No clinical features reported | Figure\-positive child of carrier IV\-21 |

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