A3243G-F158

**Figure 1\. Pedigree diagram for family A3243G\-F158\.**

![](/media/202607/A3243G-F158-pedigree_20260701025432424054.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 | 3243 | m.3243A\>G | A3243G\-F158 | Japan | Maternally inherited diabetes and deafness | 1 | 0 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Table 3 family; blood/peripheral\-white\-cell positive, individual load not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F158 from Japan with maternally inherited diabetes and deafness. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was diabetes onset age 48, insulin treatment, hearing loss, no diabetic complication reported.

# 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 | 3243 | m.3243A\>G | A3243G\-F158 | A3243G\-F158\-I1 | Uninf | F | Y | Y | A | 62 | / | / | / | / | Diabetes onset age 48, insulin treatment, hearing loss; No diabetic complication reported | Table 3 Patient 1; mutation detected by peripheral white\-cell PCR/ApaI screening. |
| 2 | 3243 | m.3243A\>G | A3243G\-F158 | A3243G\-F158\-II1 | Fam | F | N | N | A | 28 | / | / | / | / | Healthy | A3243G\-positive daughter of Patient 1; treated as unaffected for G/H based on Table 3; Healthy |

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