G8363A-F9

**Figure 1\. Pedigree diagram for family G8363A\-F9\.**

![](/media/202607/G8363A-F9-pedigree_20260701024730472744.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\-F9 | Italy | MERRF\-like syndrome; deafness; myopathy; ataxia; lipomatosis | 7 | 3 | 2009 | [19278689](https://pubmed.ncbi.nlm.nih.gov/19278689/) | Fig. 1 |

The **m.8363G\>A** variant in MT\-TK was reported in family G8363A\-F9 from Italy with merrf\-like syndrome; deafness; myopathy; ataxia; lipomatosis. The pedigree record reported 7 unaffected and 3 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 5/12 carriers were affected, and the main clinical manifestation among affected carriers was neurosensorial hypoacusia, slurred speech, mild ptosis, short stature, diabetes, cervico\-lipomas, mild cognitive deficit, logorrhoea.

# 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\-F9 | G8363A\-F9\-III2 | Fam | F | N | Y | A | 51 | 62% | / | 87% | / | Neurosensorial hypoacusia; slurred speech; mild ptosis; short stature | III\-4 |
| 2 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-III3 | Fam | F | N | Y | A | 65 | 58% | / | 70% | / | Diabetes; cervico\-lipomas; mild cognitive deficit; logorrhoea; short stature | III\-5 |
| 3 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV5 | Fam | F | N | Y | A | 35 | 46% | / | 85% | / | Behavioural and psychiatric abnormalities with bipolar\-disorder features | IV\-6 |
| 4 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV6 | Fam | F | Y | Y | D | 29 | 90% | 92% | 95% | 95% (F); 79% (Myoblasts) | Mental retardation; sensorineural hearing loss; myopathy; myoclonic epilepsy; ataxia; lipomas; short stature; cerebellar atrophy | IV\-7; died at age 30 from respiratory infection, sepsis and respiratory failure |
| 5 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV7 | Fam | F | Y | Y | A | 29 | 85% | 93% | 96% | 86% (Myoblasts) | Mental retardation; sensorineural hearing loss; myopathy; myoclonic epilepsy; ataxia; lipomas; migraine\-like cephalalgia | IV\-8 |
| 6 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-III1 | Fam | F | N | N | A | ND | 10% | / | 33% | / | Healthy | Original label III\-2\. |
| 7 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV1 | Fam | M | N | N | A | ND | 45% | / | / | / | Healthy | Original label IV\-1\. |
| 8 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV2 | Fam | F | N | N | A | ND | 2% | / | 10% | / | Healthy | Original label IV\-2\. |
| 9 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV3 | Fam | F | N | N | A | 34 | 35% | / | 52% | / | Healthy | Original label IV\-4\. |
| 10 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-IV4 | Fam | F | N | N | A | 33 | 45% | / | 67% | / | Healthy | Original label IV\-5\. |
| 11 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-V1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Original label V\-1; untested child of target\-positive mother IV\-4\. |
| 12 | 8363 | m.8363G\>A | G8363A\-F9 | G8363A\-F9\-V2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original label V\-2; untested child of target\-positive mother IV\-4\. |

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