A8296G-F28

**Figure 1\. Pedigree diagram for family A8296G\-F28\.**

![](/media/202607/A8296G-F28-pedigree_20260701023536866723.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\-F28 | India | Type 2 diabetes mellitus | 0 | 1 | 2010 | [20143911](https://pubmed.ncbi.nlm.nih.gov/20143911/) | / |

The **m.8296A\>G** variant in MT\-TK was reported in family A8296G\-F28 from India with type 2 diabetes mellitus. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was type 2 diabetes mellitus, onset 34, no hearing loss, diabetes mellitus, neuromuscular disorder.

# 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\-F28 | A8296G\-F28\-II1 | Fam | M | Y | Y | A | 38 | Hetero; load NR | / | / | / | Type 2 diabetes mellitus; onset 34; no hearing loss | Original label: Case 1; m.8296A\>G detected in peripheral leukocyte DNA; no numeric load reported; siblings asymptomatic and untested. |
| 2 | 8296 | m.8296A\>G | A8296G\-F28 | A8296G\-F28\-I1 | uninf | F | N | Y | A | ND | / | / | / | Detected (ND) | Diabetes mellitus; neuromuscular disorder | Original relationship: mother of Case 1; same m.8296A\>G mutation shared; sample/source and numeric load not separately specified. |

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