A3243G-F235

**Figure 1\. Pedigree diagram for family A3243G\-F235\.**

![](/media/202607/A3243G-F235-pedigree_20260701030144354625.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\-F235 | Japan | Diabetes/MELAS with pancreatic exocrine dysfunction investigated | 0 | 1 | 1998 | [9541116](https://pubmed.ncbi.nlm.nih.gov/9541116/) | Figure 1 Family C; mother and son are both target\-positive. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F235 from Japan with diabetes/melas with pancreatic exocrine dysfunction investigated. 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 mellitus from age 53, pancreatic exocrine dysfunction by bentiromide test with urinary paba recovery 50%, melas with stroke\-like episodes and hemianopia from age 21, diabetes mellitus from age 23, urinary paba recovery 40%.

# 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\-F235 | A3243G\-F235\-P1 | Fam | F | Y | Y | A | 55 | 6% | / | / | / | Diabetes mellitus from age 53; Pancreatic exocrine dysfunction by bentiromide test with urinary PABA recovery 50% | Figure 1 Family C proband/mother; blood A3243G load 6%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F235 | A3243G\-F235\-P2 | Fam | M | N | Y | A | 25 | 44% | / | / | / | MELAS with stroke\-like episodes and hemianopia from age 21; Diabetes mellitus from age 23; Urinary PABA recovery 40% | Figure 1 Family C son of target\-positive C\-I; blood A3243G load 44%. |

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