A3243G-F203

**Figure 1\. Pedigree diagram for family A3243G\-F203\.**

![](/media/202607/A3243G-F203-pedigree_20260701030026586907.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\-F203 | United Kingdom | Maternally inherited diabetes and deafness with impaired glucose tolerance | 0 | 3 | 1997 | [9212310](https://pubmed.ncbi.nlm.nih.gov/9212310/) | Figure 1 pedigree. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F203 from United Kingdom with maternally inherited diabetes and deafness with impaired glucose tolerance. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was nerve deafness and impaired glucose tolerance, no diabetes reported, diabetes diagnosed at 39, clinically deaf, islet cell antibody negative, diabetes diagnosed at 28, insulin required within the first year.

# 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\-F203 | A3243G\-F203\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | Nerve deafness and impaired glucose tolerance; No diabetes reported | / |
| 2 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III2 | Fam | M | Y | Y | A | 42 | / | / | / | / | Diabetes diagnosed at 39; Clinically deaf; Islet cell antibody negative | / |
| 3 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III3 | Fam | F | Y | Y | A | 34 | / | / | / | / | Diabetes diagnosed at 28; Insulin required within the first year; Clinically deaf; Islet cell antibody negative | / |
| 4 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III4 | Fam | F | N | Y | A | ND | / | / | / | / | Nerve deafness and impaired glucose tolerance; No diabetes reported | / |

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