A3243G-F165

**Figure 1\. Pedigree diagram for family A3243G\-F165\.**

![](/media/202607/A3243G-F165-pedigree_20260701025506617099.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\-F165 | Japan | Impaired glucose tolerance with A3243G; child with MELAS | 0 | 1 | 1995 | [7714102](https://pubmed.ncbi.nlm.nih.gov/7714102/) | Patient 1 family; son is included despite no molecular testing because mother is confirmed A3243G\-positive and child phenotype is explicitly reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F165 from Japan with impaired glucose tolerance with a3243g; child with melas. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was impaired glucose tolerance, no raised hearing threshold, past history of giving birth to a boy with melas, melas, died at 15 months.

# 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\-F165 | A3243G\-F165\-P1 | Fam | F | Y | Y | A | 29 | / | / | / | / | Impaired glucose tolerance; No raised hearing threshold; Past history of giving birth to a boy with MELAS | Fig.1 lane 1 / Fig.2\-1 Patient 1; mutation percentage differed among patients but exact value not reported; family history of diabetes mellitus in paternal and maternal lineages |
| 2 | 3243 | m.3243A\>G | A3243G\-F165 | A3243G\-F165\-P2 | Fam | M | N | Y | D | 15 months at death | / | / | / | / | MELAS; Died at 15 months | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |

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