A3243G-F263

**Figure 1\. Pedigree diagram for family A3243G\-F263\.**

![](/media/202607/A3243G-F263-pedigree_20260701030237366014.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\-F263 | Germany | Maternally inherited diabetes and deafness with A3243G; epilepsy/Addison features in maternal family | 1 | 1 | 1998 | [9831303](https://pubmed.ncbi.nlm.nih.gov/9831303/) | Original paper family 2\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F263 from Germany with maternally inherited diabetes and deafness with a3243g; epilepsy/addison features in maternal family. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was diabetes onset 46, hearing loss, epilepsy, morbus addison, impaired glucose tolerance at 41, middle\-ear hearing loss, no diabetes, impaired glucose tolerance or hearing loss reported.

# 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\-F263 | A3243G\-F263\-I1 | Uninf | F | Y | Y | A | 63 | / | / | / | 10%(ND) | Diabetes onset 46; Hearing loss; Epilepsy; Morbus Addison | Original label MH31\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F263 | A3243G\-F263\-II1 | Fam | M | N | Y | A | 41 | / | / | / | 5%(ND) | Impaired glucose tolerance at 41; Middle\-ear hearing loss | Original label MH35\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F263 | A3243G\-F263\-II3 | Fam | M | N | Y | A | 32 | / | / | / | 0%(ND) | No diabetes, impaired glucose tolerance or hearing loss reported | Original label MH34\. |

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