A4401G-F2

**Figure 1\. Pedigree diagram for family A4401G\-F2\.**

![](/media/202606/20260626181053063933.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4401 | m.4401A\>G | A4401G\-F2 | Chinese | Hypertension | 0 | 2 | 2009 | [19546379](https://pubmed.ncbi.nlm.nih.gov/19546379/) |  |

The **m.4401A\>G** variant in MT\-NC2 was reported in family A4401G\-F2 from Chinese with hypertension. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was essential hypertension, blood pressure 180, 110 mm hg., blood pressure 140, 95 mm hg..

# 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 | 4401 | m.4401A\>G | A4401G\-F2 | A4401G\-F2\-II\-1 | Uninf | F | Y | Y | A | 65 | Homo | / | / | / | Essential hypertension; blood pressure 180/110 mm Hg. |  |
| 2 | 4401 | m.4401A\>G | A4401G\-F2 | A4401G\-F2\-III\-3 | Fam | M | N | Y | A | 41 | Homo | / | / | / | Essential hypertension; blood pressure 140/110 mm Hg. |  |
| 3 | 4401 | m.4401A\>G | A4401G\-F2 | A4401G\-F2\-III\-5 | Fam | M | N | Y | A | 37 | Homo | / | / | / | Essential hypertension; blood pressure 140/95 mm Hg. |  |

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