A3243G-F196

**Figure 1\. Pedigree diagram for family A3243G\-F196\.**

![](/media/202607/A3243G-F196-pedigree_20260701025852047412.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\-F196 | Japan | Diabetes mellitus with mitochondrial myopathy features | 0 | 1 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Fig.1 family tree carrier plus Table 1/Table 2 proband. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F196 from Japan with diabetes mellitus with mitochondrial myopathy features. 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 niddm onset 42, hearing impairment, allele\-specific positive below pcr\-rflp threshold, diabetes mellitus by fig.1\.

# 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\-F196 | A3243G\-F196\-P5 | Fam | M | Y | Y | A | 51 | \<0\.2% | \<0\.2% | / | / | NIDDM onset 42; Hearing impairment; Allele\-specific positive below PCR\-RFLP threshold | Age at biopsy 51; allele\-specific PCR positive; PCR\-RFLP considered below 0\.2%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F196 | A3243G\-F196\-P1 | Fam | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus by Fig.1 | Fig.1 mother has tRNA(3243\) mutation and diabetes symbols; Diabetes mellitus by Fig.1 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).