A3243G-F191

**Figure 1\. Pedigree diagram for family A3243G\-F191\.**

![](/media/202607/A3243G-F191-pedigree_20260701025834938179.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\-F191 | Korea | diabetes mellitus with myoclonic epilepsy and sensorineural hearing loss | 2 | 0 | 1997 | [9024220](https://pubmed.ncbi.nlm.nih.gov/9024220/) | One Korean A3243G family detected from a 503\-patient diabetes cohort. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F191 from Korea with diabetes mellitus with myoclonic epilepsy and sensorineural hearing loss. 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; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, myoclonic epilepsy involving the right facial muscle from age 12, mild sensorineural hearing loss, low c peptide response, no diabetes or neuromuscular symptoms, oral glucose tolerance test normal.

# 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\-F191 | A3243G\-F191\-P1 | Fam | M | Y | Y | A | 22 | 32% | / | / | / | Diabetes mellitus, myoclonic epilepsy involving the right facial muscle from age 12, mild sensorineural hearing loss, low C peptide response | Peripheral blood lymphocyte mtDNA; relative mutant:wild\-type proportion about 32:68\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F191 | A3243G\-F191\-P2 | Fam | F | N | Y | A | ND | / | / | / | / | No diabetes or neuromuscular symptoms; Oral glucose tolerance test normal | Mother; Figure 1/text report heteroplasmic A3243G in family\-member blood DNA; no percentage reported. |
| 3 | 3243 | m.3243A\>G | A3243G\-F191 | A3243G\-F191\-P3 | Fam | M | N | Y | A | ND | / | / | / | / | No diabetes or neuromuscular symptoms; Oral glucose tolerance test normal | Younger brother; Figure 1/text report heteroplasmic A3243G in family\-member blood DNA; no percentage reported. |

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