T8993G-F47

**Figure 1\. Pedigree diagram for family T8993G\-F47\.**

![](/media/202607/T8993G-F47-pedigree_20260701001320671587.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 | 8993 | m.8993T\>G | T8993G\-F47 | French | NARP prenatal diagnosis/risk | 1 | 1 | 2007 | [17545557](https://pubmed.ncbi.nlm.nih.gov/17545557/) | Family 4 |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F47 from French with narp prenatal diagnosis/risk. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was narp.

# 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 | 8993 | m.8993T\>G | T8993G\-F47 | T8993G\-F47\-I1 | Uninf | F | N | N | A | ND | 55% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F47 | T8993G\-F47\-II2 | Fam | F | N | Y | D | ND | / | / | / | 95%(F) | NARP |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F47 | T8993G\-F47\-II3 | Fam | ND | Y | ND | D | 19 wk gestation | / | / | / | 64%(CVS); 65%(AS1\) | ND | Prenatal diagnosis paper. |

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