A3243G-F205

**Figure 1\. Pedigree diagram for family A3243G\-F205\.**

![](/media/202607/A3243G-F205-pedigree_20260701030043826498.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\-F205 | Netherlands | Progressive kidney disease, diabetes, and sensorineural hearing loss with A3243G | 2 | 0 | 1997 | [9219161](https://pubmed.ncbi.nlm.nih.gov/9219161/) | Family B from Figure 1/Table 1; adds two untested unaffected children of the target\-positive proband. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F205 from Netherlands with progressive kidney disease, diabetes, and sensorineural hearing loss with a3243g. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was diabetes, hearing impairment, renal transplant and arterial hypertension.

# 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\-F205 | A3243G\-F205\-P1 | Fam | F | Y | Y | A | 34 | 34% | / | / | 32%(ND) | Diabetes, hearing impairment, renal transplant and arterial hypertension | Family B arrowed proband; Table 1\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F205 | A3243G\-F205\-P2 | Fam | M | N | N | A | 2 | / | / | / | / | 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 B\-IV\-3 |
| 3 | 3243 | m.3243A\>G | A3243G\-F205 | A3243G\-F205\-P3 | Fam | F | N | N | A | 0 | / | / | / | / | 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 B\-IV\-3 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).