A3243G-F206

**Figure 1\. Pedigree diagram for family A3243G\-F206\.**

![](/media/202607/A3243G-F206-pedigree_20260701030052348578.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\-F206 | Netherlands | Progressive kidney disease, diabetes, and sensorineural hearing loss with A3243G | 4 | 1 | 1997 | [9219161](https://pubmed.ncbi.nlm.nih.gov/9219161/) | Family C from Figure 1/Table 1; includes C\-III\-1 plus proband and eligible untested children. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F206 from Netherlands with progressive kidney disease, diabetes, and sensorineural hearing loss with a3243g. The pedigree record reported 4 unaffected and 1 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 2/6 carriers were affected, and the main clinical manifestation among affected carriers was diabetes, hearing impairment, renal transplant and arterial hypertension, normal ogtt, 60 db sensorineural hearing loss.

# 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\-F206 | A3243G\-F206\-P1 | Fam | F | Y | Y | A | 41 | 18% | / | / | 32%(ND) | Diabetes, hearing impairment, renal transplant and arterial hypertension | Family C arrowed proband; Table 1\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P2 | Fam | F | N | Y | A | 69 | 4% | / | / | 7%(ND) | Normal OGTT; 60 dB sensorineural hearing loss | Family C maternal relative and target\-positive mother of C\-IV\-3; Table 1\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P3 | Fam | F | N | N | A | 43 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-III\-1 |
| 4 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P4 | Fam | F | N | N | A | 43 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-III\-1 |
| 5 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P5 | Fam | F | N | N | A | 31 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-III\-1 |
| 6 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P6 | Fam | F | N | N | A | 11 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-IV\-3 |

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