A4833G-F1

**Figure 1\. Pedigree diagram for family A4833G\-F1\.**

![](/media/202607/A4833G-F1-pedigree_20260701020617314229.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 | 4833 | m.4833A\>G | A4833G\-F1 | Japan | Type 2 diabetes mellitus | 2 | 3 | 2000 | [11095989](https://pubmed.ncbi.nlm.nih.gov/11095989/) |  |

The **m.4833A\>G** variant in MT\-ND2 was reported in family A4833G\-F1 from Japan with type 2 diabetes mellitus. The pedigree record reported 2 unaffected and 3 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was impaired glucose tolerance, type 2 diabetes mellitus.

# 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 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-II1 | Fam | F | N | Y | A | 60y | / | / | / | / | Impaired glucose tolerance |  |
| 2 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-II2 | Fam | M | N | Y | A | 64y | / | / | / | / | Type 2 diabetes mellitus |  |
| 3 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-II3 | Fam | F | N | Y | A | 66y | / | / | / | / | Type 2 diabetes mellitus |  |
| 4 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-III1 | Fam | F | Y | Y | A | 44y | / | / | / | Positive(F,BM) | Type 2 diabetes mellitus |  |
| 5 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-III2 | Fam | F | N | N | A | 42y | / | / | / | / | Healthy |  |
| 6 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-III3 | Fam | F | N | N | A | 40y | / | / | / | / | Healthy |  |

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