A8296G-F14

**Figure 1\. Pedigree diagram for family A8296G\-F14\.**

![](/media/202607/A8296G-F14-pedigree_20260701023435234121.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 | 8296 | m.8296A\>G | A8296G\-F14 | Japan | Diabetes mellitus; impaired insulin secretion | 0 | 0 | 1998 | [9802769](https://pubmed.ncbi.nlm.nih.gov/9802769/) | Family DM2 |

The **m.8296A\>G** variant in MT\-TK was reported in family A8296G\-F14 from Japan with diabetes mellitus; impaired insulin secretion. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, impaired insulin secretion.

# 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 | 8296 | m.8296A\>G | A8296G\-F14 | A8296G\-F14\-II1 | Fam | ND | ND | Y | A | 47 | / | / | / | Hetero (ND) | Diabetes mellitus; impaired insulin secretion | Table 1 subject with the 8296 mutation; relationship not reported. |
| 2 | 8296 | m.8296A\>G | A8296G\-F14 | A8296G\-F14\-II2 | Fam | ND | ND | Y | A | 63 | / | / | / | Hetero (ND) | Diabetes mellitus; impaired insulin secretion | Table 1 subject with the 8296 mutation; relationship not reported. |
| 3 | 8296 | m.8296A\>G | A8296G\-F14 | A8296G\-F14\-II3 | Fam | ND | ND | Y | A | 61 | / | / | / | Hetero (ND) | Diabetes mellitus; impaired insulin secretion | Table 1 subject with the 8296 mutation; relationship not reported. |
| 4 | 8296 | m.8296A\>G | A8296G\-F14 | A8296G\-F14\-II4 | Fam | ND | ND | Y | A | 58 | / | / | / | Hetero (ND) | Diabetes mellitus; impaired insulin secretion | Table 1 subject with the 8296 mutation; relationship not reported. |
| 5 | 8296 | m.8296A\>G | A8296G\-F14 | A8296G\-F14\-II5 | Fam | ND | ND | Y | A | 55 | / | / | / | Hetero (ND) | Diabetes mellitus; impaired insulin secretion | Table 1 subject with the 8296 mutation; relationship not reported. |
| 6 | 8296 | m.8296A\>G | A8296G\-F14 | A8296G\-F14\-II6 | Fam | ND | ND | Y | A | 50 | / | / | / | Hetero (ND) | Diabetes mellitus; impaired insulin secretion | Table 1 subject with the 8296 mutation; relationship not reported. |

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