A4401G-F1

**Figure 1\. Pedigree diagram for family A4401G\-F1\.**

![](/media/202606/20260626181032179681.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\-F1 | Chinese | Hypertension\+Left ventricular hypertrophy | 2 | 2 | 2009 | [18701880](https://pubmed.ncbi.nlm.nih.gov/18701880/) |  |

The **m.4401A\>G** variant in MT\-NC2 was reported in family A4401G\-F1 from Chinese with hypertension\+left ventricular hypertrophy. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 4/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was hypertension and lvh, dizziness and fainting., headache..

# 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\-F1 | A4401G\-F1\-I\-2 | Uninf | F | Y | Y | A | 64 | Homo | / | / | / | Hypertension and LVH; dizziness and fainting. |  |
| 2 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-II\-1 | Fam | M | N | Y | A | ND | 60% | / | / | / | Hypertension and LVH; headache. |  |
| 3 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-II\-4 | Fam | F | N | N | A | ND | Homo | / | / | / | Asymptomatic molecular\-positive maternal relative. |  |
| 4 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-II\-5 | Fam | M | N | Y | A | 17 | Homo | / | / | / | Hypertension and LVH; headache. |  |
| 5 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-III\-2 | Fam | M | N | N | A | ND | Homo | / | / | / | Asymptomatic molecular\-positive maternal relative. |  |

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