T8993G-F49

**Figure 1\. Pedigree diagram for family T8993G\-F49\.**

![](/media/202607/T8993G-F49-pedigree_20260701001357454007.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\-F49 | French | NARP prenatal diagnosis/risk | 2 | 4 | 2007 | [17545557](https://pubmed.ncbi.nlm.nih.gov/17545557/) | Family 6 |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F49 from French with narp prenatal diagnosis/risk. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 0/6 carriers were affected, and the main clinical manifestation among affected carriers was not available.

# 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\-F49 | T8993G\-F49\-II6 | Fam | F | N | N | A | ND | 75% | / | / | 77%(BM) | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F49 | T8993G\-F49\-III1 | Fam | ND | N | N | A | 4 y follow\-up | / | / | / | 30%(CVS) | Healthy at 4 years | Prenatal diagnosis paper. |
| 3 | 8993 | m.8993T\>G | T8993G\-F49 | T8993G\-F49\-III2 | Fam | ND | N | ND | D | 15 wk gestation | / | / | / | 70%(CVS); 70%(AS1\) | Prenatal intermediate/high mutant load | Prenatal diagnosis paper. |
| 4 | 8993 | m.8993T\>G | T8993G\-F49 | T8993G\-F49\-II7 | Fam | F | N | N | A | ND | 30% | / | / | 38%(BM) | Healthy |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F49 | T8993G\-F49\-III4 | Fam | ND | N | ND | D | 18 wk gestation | / | / | / | 87%(AS1\) | Prenatal high mutant load | Prenatal diagnosis paper. |
| 6 | 8993 | m.8993T\>G | T8993G\-F49 | T8993G\-F49\-III5 | Fam | ND | N | ND | D | 22 wk gestation | / | / | / | 70%(AS1\) | Prenatal intermediate/high mutant load | Prenatal diagnosis paper. |

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