A3243G-F306

**Figure 1\. Pedigree diagram for family A3243G\-F306\.**

![](/media/202607/A3243G-F306-pedigree_20260701030432767331.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\-F306 | France | FSGS/renal disease with maternally inherited A3243G; diabetes/deafness | 0 | 2 | 2000 | [11044204](https://pubmed.ncbi.nlm.nih.gov/11044204/) | Family B pedigree; inferred mother counted for G/H only. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F306 from France with fsgs/renal disease with maternally inherited a3243g; diabetes/deafness. The pedigree record reported 0 unaffected and 2 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 fsgs, proteinuria, insulin\-dependent diabetes, deafness, diabetes.

# 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\-F306 | A3243G\-F306\-P3 | Fam | F | Y | Y | A | 32 referral | 56% | / | / | 66%(Kidney) | FSGS/proteinuria, insulin\-dependent diabetes, deafness | Family B; renal biopsy marked in pedigree. |
| 2 | 3243 | m.3243A\>G | A3243G\-F306 | A3243G\-F306\-P1 | Fam | F | N | Y | A | ND | 66% | / | / | / | Diabetes | Family B sister of Case 3; A3243G\-positive sister |

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