A8344G-F66

**Figure 1\. Pedigree diagram for family A8344G\-F66\.**

![](/media/202607/A8344G-F66-pedigree_20260701024405543190.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\-F66 | United States; Cherokee Indian ancestry | Maternally inherited spinocerebellar degeneration / Leigh disease / MERRF spectrum | 0 | 6 | 1996 | [8559379](https://pubmed.ncbi.nlm.nih.gov/8559379/) | No explicit proband arrow is given. H uses fallback affected eligible relatives minus 1\. IV\-3 and IV\-4 are entered as untested affected children of confirmed\-positive mother III\-3; IV\-2 is negative but paternal\-line and excluded. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F66 from United States; Cherokee Indian ancestry with maternally inherited spinocerebellar degeneration / leigh disease / merrf spectrum. The pedigree record reported 0 unaffected and 6 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was late\-childhood mild ataxia, pes cavus, pyramidal tract findings, painful distal sensory loss, tachycardia, multiple cutaneous lipomas., cutaneous lipomas, visual acuity loss.

# 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\-F66 | A8344G\-F66\-II1 | Fam | F | ND | Y | A | 73 | / | / | / | 38%(Platelets) | Late\-childhood mild ataxia; pes cavus; pyramidal tract findings; painful distal sensory loss; tachycardia; multiple cutaneous lipomas. | Fibroblasts ND; platelet clone fraction 9/24 (38%). |
| 2 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-III2 | Fam | M | ND | Y | A | 45 | / | / | / | 63%(F); 75%(Platelets) | Cutaneous lipomas; visual acuity loss; muscle cramps; occasional myoclonic jerks; lifelong tandem gait difficulty | Fibroblast clone fraction 14/24 (63%); platelet clone fraction 18/24 (75%). Mildly affected at present. |
| 3 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-III3 | Fam | F | ND | Y | A | 45 | / | / | / | 74%(F); 91%(Platelets) | Childhood\-onset progressive ataxia; assisted ambulation; wide\-based gait; dystonic posture; areflexia; Babinski signs; pes cavus; distal sensory loss; dysarthria; hearing impairment; cardiomyopathy; optic atrophy. | Fibroblast clone fraction 17/23 (74%); platelet clone fraction 21/23 (91%). |
| 4 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-IV3 | Fam | M | N | Y | D | 10 months | / | / | / | / | Leigh disease; lactic acidosis; cardiomyopathy; respiratory failure from primary central hypoventilation; optic atrophy; myoclonic seizures; skeletal myopathy. | No molecular testing in child; included because mother III\-3 has confirmed mutation load and child phenotype is explicitly reported. |
| 5 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-IV4 | Fam | M | N | Y | D | 4 | / | / | / | / | Leigh disease at autopsy; seizures; lactic acidosis; skeletal and hypertrophic cardiomyopathy; chronic respiratory failure from primary central hypoventilation. | No molecular testing in child; included because mother III\-3 has confirmed mutation load and child phenotype is explicitly reported. |

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