A3243G-F161

**Figure 1\. Pedigree diagram for family A3243G\-F161\.**

![](/media/202607/A3243G-F161-pedigree_20260701025449333597.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\-F161 | Japan | Maternally inherited diabetes and deafness | 0 | 1 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Table 3 family; both mother and son affected. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F161 from Japan with maternally inherited diabetes and deafness. 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 diabetes onset age 30, insulin treatment, no complication or hearing loss reported, diabetes onset age 48, hearing loss, no 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\-F161 | A3243G\-F161\-II1 | Fam | M | Y | Y | A | 36 | / | / | / | / | Diabetes onset age 30, insulin treatment; No complication or hearing loss reported | Table 3 Patient 4; mutation detected by peripheral white\-cell PCR/ApaI screening. |
| 2 | 3243 | m.3243A\>G | A3243G\-F161 | A3243G\-F161\-I1 | Uninf | F | N | Y | A | 63 | / | / | / | / | Diabetes onset age 48, insulin treatment, hearing loss; No complication reported | A3243G\-positive mother of Patient 4\. |

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