G8363A-F4

**Figure 1\. Pedigree diagram for family G8363A\-F4\.**

![](/media/202607/G8363A-F4-pedigree_20260701024721399206.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 | 8363 | m.8363G\>A | G8363A\-F4 | USA | Leigh syndrome / MERRF | 1 | 5 | 2000 | [11108511](https://pubmed.ncbi.nlm.nih.gov/11108511/) | Figure 1 pedigree. |

The **m.8363G\>A** variant in MT\-TK was reported in family G8363A\-F4 from USA with leigh syndrome / merrf. The pedigree record reported 1 unaffected and 5 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 6/7 carriers were affected, and the main clinical manifestation among affected carriers was oligosymptomatic, leg pain and numbness, sensory deficits in stocking distribution, merrf, myoclonus, seizures, progressive hearing loss, migraine\-like headaches.

# 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 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-I1 | uninf | F | N | Y | A | 51 | 59% | / | / | / | Oligosymptomatic; leg pain and numbness; sensory deficits in stocking distribution | Figure 1/2 I1\. |
| 2 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-II1 | Fam | F | N | Y | A | 32 | 72% | 84% | / | / | MERRF; myoclonus; seizures; progressive hearing loss; migraine\-like headaches; sensory symptoms; ragged red/COX\-negative fibers | Figure 1/2 II1; symptom onset in late 20s. |
| 3 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-II2 | Fam | F | N | Y | A | ND | 61% | / | / | / | Oligosymptomatic | Figure 1/2 II3\. |
| 4 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-III1 | Fam | M | N | Y | A | 14 | / | / | / | / | Leg control problems | Figure 1 III1; no molecular testing in child; included because mother II1 has confirmed target mutation and phenotype is reported. |
| 5 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-III2 | Fam | M | N | N | A | 9 | / | / | / | / | Healthy | Figure 1 III2; no molecular testing in child; included because mother II1 has confirmed target mutation and phenotype is reported. |
| 6 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-III3 | Fam | F | N | Y | D | 2\.5 | / | / | / | / | Neuropathologically confirmed Leigh syndrome; developmental delay; respiratory problems; optic atrophy; died at 2\.5 years | Figure 1 III3; no molecular testing in child; included because mother II1 has confirmed target mutation and phenotype is reported. |
| 7 | 8363 | m.8363G\>A | G8363A\-F4 | G8363A\-F4\-III4 | Fam | F | Y | Y | D | 13 mo; died 27 mo | \>98% | \>98% | / | / | Leigh syndrome; failure to thrive; developmental delay/regression; abnormal respiration; seizures; lactic acidosis; ragged red fibers; cardiorespiratory failure | Figure 1/2 III4; RFLP load quantified in blood and muscle. |

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