A3243G-F105

**Figure 1\. Pedigree diagram for family A3243G\-F105\.**

![](/media/202607/A3243G-F105-pedigree_20260701024828417306.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\-F105 | Canada | MELAS\-like encephalomyopathy, sensorineural hearing loss, retinal degeneration, migraine, hypogonadism, and mild myopathy | 2 | 4 | 1993 | [8442706](https://pubmed.ncbi.nlm.nih.gov/8442706/) | Fig.2 is the controlling evidence for labels and mutation percentages. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F105 from Canada with melas\-like encephalomyopathy, sensorineural hearing loss, retinal degeneration, migraine, hypogonadism, and mild myopathy. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was sensorineural hearing loss, proximal muscle weakness, retinal pigmentary degeneration, menstrual irregularities, and niddm, retinal degeneration, migraine, primary amenorrhea.

# 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\-F105 | A3243G\-F105\-II2 | Fam | F | N | Y | A | 69 | 14% | 57% | / | / | Sensorineural hearing loss, proximal muscle weakness, retinal pigmentary degeneration, menstrual irregularities, and NIDDM | Mother of proband; Case 2; Fig.2 M\=57%, B\=14%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III1 | Fam | F | Y | Y | A | 46 | 43% | 87% | / | / | Sensorineural hearing loss, retinal degeneration, migraine, primary amenorrhea, Wernicke aphasia/stroke\-like episode, elevated lactate, RRFs, and seizures | Case 1; solid proband in Fig.2; highest mutation percentage. |
| 3 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III4 | Fam | M | N | N | A | 38 | 0% | / | / | / | Healthy | Half\-brother sharing target\-positive mother II\-2; blood mutation not detected. Eligible negative\-tested maternal\-line row; branch stop for descendants; Healthy |
| 4 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-II6 | Fam | F | N | Y | A | 59 | 28% | 72% | / | / | Progressive hearing loss, retinal pigmentary degeneration, menstrual irregularities, elevated lactate, basal ganglia calcification, and RRFs | Case 4 maternal aunt; Fig.2 labels the measured individual as II\-6 with M\=72%, B\=28%. |
| 5 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III8 | Fam | M | N | Y | A | 38 | 22% | / | / | / | Sensorineural hearing loss, severe migrainelike headaches, retinal pigmentary degeneration, and mild proximal upper\-extremity weakness | Case 5; Fig.2 shows B\=22%; no muscle biopsy was performed. |
| 6 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III10 | Fam | M | N | N | A | 31 | 17% | 28% | / | / | Healthy | Case 6; Fig.2 M\=28%, B\=17%; Healthy |
| 7 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III11 | Fam | F | N | Y | A | 32 | 28% | 65% | / | / | Cataracts, progressive sensorineural hearing loss, primary amenorrhea, short stature, retinal pigmentary degeneration, and RRFs | Case 3 maternal cousin; Fig.2 M\=65%, B\=28%. |

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