A8344G-F101

**Figure 1\. Pedigree diagram for family A8344G\-F101\.**

![](/media/202607/A8344G-F101-pedigree_20260701023700502515.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\-F101 | Hungarian | MERRF with depressive mood disorders | 1 | 2 | 2009 | [19266142](https://pubmed.ncbi.nlm.nih.gov/19266142/) | Healthy daughter was blood\-negative and is not entered as carrier; deceased relatives were not available for testing. Healthy daughter is entered as a blood\-negative branch\-stop relative. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F101 from Hungarian with merrf with depressive mood disorders. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was postpartum psychosis, recurrent major depression, suicidal ideation, proximal limb\-girdle weakness, multiple lipomatosis, hypoacusis, proximal muscle atrophy and weakness, ataxia.

# 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\-F101 | A8344G\-F101\-I1 | Uninf | F | Y | Y | A | 63 | 46% | 82% | / | / | Postpartum psychosis, recurrent major depression, suicidal ideation, proximal limb\-girdle weakness, multiple lipomatosis, hypoacusis, proximal muscle atrophy and weakness, ataxia, mild memory impairment, anxiety, axonal neuropathy | Muscle biopsy showed 12% ragged\-red and COX\-negative fibers.; Evidence: Page 1 Patient 1 description and heteroplasmy values. |
| 2 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-II1 | Fam | M | N | Y | A | 43 | 58% | 79% | / | / | Depressive episodes with anxiety, progressive limb\-girdle weakness, hypoacusis, dysarthria, proximal muscle weakness, distal sensory impairment, ataxia, depressed mood, axonal sensorimotor neuropathy | One of the twin sons of Patient 1\. Elevated serum and CSF lactate, myopathic EMG, and muscle biopsy myopathic changes with pleomorphic mitochondria are diagnostic/nonclinical findings moved out of Clinical Features.; Evidence: Page 1 Patient 2 description and heteroplasmy values. |
| 3 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-II2 | Fam | M | N | Y | A | 43 | 44% | 63% | / | / | Severe anxiety and phobic manifestations at age 18, presently asymptomatic | Other twin son of Patient 1; reported as currently asymptomatic but with prior psychiatric manifestation. Muscle biopsy showed minor nonspecific changes.; Evidence: Page 1 Patient 3 description and heteroplasmy values. |
| 4 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-II3 | Fam | F | N | N | A | ND | 0 | / | / | / | Healthy | Healthy daughter of Patient 1; blood\-negative for A8344G. Negative result is blood only; other tissues not tested. |

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