A3243G-F305

**Figure 1\. Pedigree diagram for family A3243G\-F305\.**

![](/media/202607/A3243G-F305-pedigree_20260701030424060875.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\-F305 | France | FSGS/renal disease with maternally inherited A3243G; diabetes/deafness | 3 | 2 | 2000 | [11044204](https://pubmed.ncbi.nlm.nih.gov/11044204/) | Family A pedigree; G/H derived figure\-first, not from carrier\-row count alone. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F305 from France with fsgs/renal disease with maternally inherited a3243g; diabetes/deafness. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 3/6 carriers were affected, and the main clinical manifestation among affected carriers was fsgs, proteinuria, deafness, diabetes, renal failure, transplant, deafness and diabetes, proteinuria and 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\-F305 | A3243G\-F305\-P1 | Fam | F | Y | Y | A | 21 referral; renal disease from 18 | 59% | / | / | / | FSGS/proteinuria, deafness, diabetes, renal failure/transplant | Family A; renal biopsy marked in pedigree. |
| 2 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P3 | Fam | F | N | Y | A | ND | 57% | / | / | / | Deafness and diabetes | Family A sister of Case 1/Case 2\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P2 | Fam | M | Y | Y | A | 40 referral; proteinuria from 18 | 49% | / | / | 55%(Kidney) | FSGS/proteinuria and diabetes | Family A; renal biopsy marked in pedigree. |
| 4 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P4 | Fam | F | N | N | A | ND | 42% | / | / | / | Healthy | Family A daughter of Case 1; A3243G\-positive open\-symbol descendant; no target symptoms shown |
| 5 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P5 | Fam | F | N | N | A | ND | 58% | / | / | / | Healthy | Family A child of 57% sister; A3243G\-positive open\-symbol descendant; no target symptoms shown |
| 6 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P6 | Fam | M | N | N | A | ND | 59% | / | / | / | Healthy | Family A child of 57% sister; A3243G\-positive open\-symbol descendant; no target symptoms shown |

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