A3243G-F198

**Figure 1\. Pedigree diagram for family A3243G\-F198\.**

![](/media/202607/A3243G-F198-pedigree_20260701025936870115.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\-F198 | Japan | Depressive disorder with A3243G, WPW syndrome, sensorineural hearing loss, and maternal diabetes | 0 | 1 | 1997 | [9146825](https://pubmed.ncbi.nlm.nih.gov/9146825/) | Case report; patient and mother are A3243G\-positive, tissue source not specified in extracted text. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F198 from Japan with depressive disorder with a3243g, wpw syndrome, sensorineural hearing loss, and maternal diabetes. 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 major depressive disorder with depressed mood, anxiety, fatigue, insomnia, wpw syndrome, mild high\-tone sensorineural hearing loss, non\-insulin\-dependent diabetes mellitus, normal rcbf.

# 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\-F198 | A3243G\-F198\-P1 | Fam | M | Y | Y | A | 22 referral; 23 admission | / | / | / | 37%(ND) | Major depressive disorder with depressed mood, anxiety, fatigue, insomnia; WPW syndrome; Mild high\-tone sensorineural hearing loss | Proband; A3243G heteroplasmy reported but sample tissue is not specified in extracted text; reduced regional cerebral blood flow |
| 2 | 3243 | m.3243A\>G | A3243G\-F198 | A3243G\-F198\-P2 | Fam | F | N | Y | A | ND | / | / | / | 16%(ND) | Non\-insulin\-dependent diabetes mellitus; Normal rCBF/SPECT reported; No depressive symptoms reported | Mother; A3243G heteroplasmy reported but sample tissue is not specified in extracted text. |

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