A3243G-F388

**Figure 1\. Pedigree diagram for family A3243G\-F388\.**

![](/media/202607/A3243G-F388-pedigree_20260701030941601454.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\-F388 | Netherlands | Steroid\-resistant nephrotic syndrome/FSGS; diabetes mellitus in sister; A3243G\-positive maternal relatives | 2 | 1 | 2005 | [15585516](https://pubmed.ncbi.nlm.nih.gov/15585516/) | Fig. 3 family tree. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F388 from Netherlands with steroid\-resistant nephrotic syndrome/fsgs; diabetes mellitus in sister; a3243g\-positive maternal relatives. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was severe steroid\-resistant nephrotic syndrome, fsgs, hearing loss 35 db, concentric left ventricular hypertrophy, steroid\-induced diabetes, insulin\-dependent diabetes mellitus.

# 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\-F388 | A3243G\-F388\-P1 | Fam | F | Y | Y | A | 31 | 30% | / | 68% | / | Severe steroid\-resistant nephrotic syndrome; FSGS; Hearing loss 35 dB; Concentric left ventricular hypertrophy; Steroid\-induced diabetes | Proband. |
| 2 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P2 | Fam | F | N | N | A | ND | 0% | / | 62% | / | Healthy | No clinical symptoms related to A3243G reported |
| 3 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P3 | Fam | F | N | Y | A | ND | 25% | / | 28% | / | Insulin\-dependent diabetes mellitus | / |
| 4 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P4 | Fam | F | N | N | A | ND | 51% | / | 52% | / | Healthy | Healthy |

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