A3243G-F276

**Figure 1\. Pedigree diagram for family A3243G\-F276\.**

![](/media/202607/A3243G-F276-pedigree_20260701030340644000.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\-F276 | Korea | Hereditary glomerulopathy/FSGS with proteinuria, diabetes, sensorineural hearing loss and seizure disorder in maternal family | 0 | 3 | 1999 | [10452273](https://pubmed.ncbi.nlm.nih.gov/10452273/) | Fig. 3/4 support four molecularly positive affected carrier rows. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F276 from Korea with hereditary glomerulopathy/fsgs with proteinuria, diabetes, sensorineural hearing loss and seizure disorder in maternal family. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was fsgs, nephrotic syndrome, bilateral sensorineural hearing loss, steroid\-induced diabetes, renal failure, peritoneal dialysis, mitochondrial myopathy, retinal pigment lesion.

# 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\-F276 | A3243G\-F276\-III2 | Fam | F | Y | Y | A | 17 | 38% | 59% | / | / | FSGS/nephrotic syndrome; Bilateral sensorineural hearing loss; Steroid\-induced diabetes; Renal failure/peritoneal dialysis; Mitochondrial myopathy; Retinal pigment lesion | III\-2 is the proband; Fig. 4 reports muscle 59% and blood 38% heteroplasmy. |
| 2 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-II3 | Fam | F | N | Y | ND | ND | 8% | / | / | / | Proteinuria; Diabetes; Mild bilateral sensorineural hearing loss | Mother of proband; Fig. 4 reports blood heteroplasmy 8%. |
| 3 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-III3 | Fam | F | N | Y | ND | ND | 6% | / | / | / | Diabetes | Younger sister of proband; Fig. 4 reports blood heteroplasmy 6%. |
| 4 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-III1 | Fam | M | N | Y | ND | ND | 13% | / | / | / | Seizure disorder | Maternal male cousin; Fig. 4 reports blood heteroplasmy 13%. |

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