A3243G-F596

**Figure 1\. Pedigree diagram for family A3243G\-F596\.**

![](/media/202607/A3243G-F596-pedigree_20260701031805312606.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\-F596 | Austria | A3243G spectrum; cardiomyopathy; sensorineural hearing loss | 0 | 2 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | Mother and maternal uncle are mutation\-positive, but exact tissue/load is not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F596 from Austria with a3243g spectrum; cardiomyopathy; sensorineural hearing loss. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was developmental delay, ataxia, hypotonia, strabismus, sensorineural hearing loss, hypertrophic cardiomyopathy and wpw, small size and 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\-F596 | A3243G\-F596\-P3 | Fam | F | Y | Y | A | 23 | / | / | / | / | Developmental delay, ataxia, hypotonia, strabismus, sensorineural hearing loss, hypertrophic cardiomyopathy and WPW | Patient 3; exact mutation tissue/load not reported in this paper. |
| 2 | 3243 | m.3243A\>G | A3243G\-F596 | A3243G\-F596\-P1 | Fam | F | N | Y | A | ND | / | / | / | / | Sensorineural hearing loss, small size and cardiomyopathy | Mother of Patient 3; m.3243A\>G detected but exact tissue/load not reported. |
| 3 | 3243 | m.3243A\>G | A3243G\-F596 | A3243G\-F596\-P2 | Fam | M | N | Y | A | ND | / | / | / | / | Sensorineural hearing loss, small size and cardiomyopathy | Maternal uncle of Patient 3; m.3243A\>G detected but exact tissue/load not reported. |

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