A3243G-F175

**Figure 1\. Pedigree diagram for family A3243G\-F175\.**

![](/media/202607/A3243G-F175-pedigree_20260701025723729154.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\-F175 | Germany | VACTERL association; MELAS/cardiomyopathy/CPEO/deafness/asymptomatic A3243G relatives | 4 | 3 | 1996 | [8723071](https://pubmed.ncbi.nlm.nih.gov/8723071/) | Fig. 1 pedigree; Table I. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F175 from Germany with vacterl association; melas/cardiomyopathy/cpeo/deafness/asymptomatic a3243g relatives. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 4/8 carriers were affected, and the main clinical manifestation among affected carriers was mild neural deafness, cpeo, ptosis, ophthalmoparesis, proximal myopathy, lactic acidemia, melas, severe mitochondrial cardiomyopathy.

# 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\-F175 | A3243G\-F175\-I1 | Uninf | F | N | N | A | 91 | 35% | / | / | / | Healthy | Healthy |
| 2 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-II1 | Fam | F | N | Y | A | 66 | 5% | / | / | / | Mild neural deafness | / |
| 3 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-III1 | Fam | F | N | Y | A | 43 | 14% | 77% | / | / | CPEO; Ptosis/ophthalmoparesis; Proximal myopathy; Mild neural deafness; Lactic acidemia | / |
| 4 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-III2 | Fam | F | N | N | A | 42 | 3% | / | / | / | Healthy | Healthy |
| 5 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-III3 | Fam | M | N | N | A | 38 | 7% | / | / | / | Healthy | Fig.1/Table I; male branch does not transmit mtDNA to IV\-4; Healthy |
| 6 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-IV1 | Fam | F | N | Y | D | 16 | / | / | / | / | MELAS; Severe mitochondrial cardiomyopathy; Severe deafness; Dementia; Ataxia; Hemianopia; Proximal myopathy; Died about age 17 | / |
| 7 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-IV2 | Fam | F | Y | Y | D | 1 mo | / | / | / | 32%(ND); 100%(ND) | VACTERL; Renal failure; Died day 31 | Proposita; marked by arrow in Fig. 1\. |
| 8 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-IV3 | Fam | F | N | N | A | 19 | 17% | / | / | / | Healthy | Healthy |

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