A3243G-F321

**Figure 1\. Pedigree diagram for family A3243G\-F321\.**

![](/media/202607/A3243G-F321-pedigree_20260701030541627029.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\-F321 | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 1 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | 1a is the son of 1b; both are A3243G\-positive symptomatic patients. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F321 from Germany with variable a3243g phenotypes with hearing impairment. 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, limb weakness, external ophthalmoplegia, rrf, hearing loss, ptosis only.

# 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\-F321 | A3243G\-F321\-II1 | Fam | M | Y | Y | A | 51 | 2% | 29% | / | / | Diabetes, limb weakness, external ophthalmoplegia, RRF | 1a; son of 1b; Table 1 A3243G\-positive load in blood and muscle. |
| 2 | 3243 | m.3243A\>G | A3243G\-F321 | A3243G\-F321\-I1 | Uninf | F | N | Y | A | 73 | 2% | / | / | / | Hearing loss, diabetes, limb weakness, ptosis only | 1b; mother of 1a; Table 1 A3243G\-positive load in blood. |

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