A3243G-F122

**Figure 1\. Pedigree diagram for family A3243G\-F122\.**

![](/media/202607/A3243G-F122-pedigree_20260701024946970624.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\-F122 | Taiwan | MELAS syndrome in a Chinese family | 2 | 4 | 1994 | [8201329](https://pubmed.ncbi.nlm.nih.gov/8201329/) | Table 1; figure |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F122 from Taiwan with melas syndrome in a chinese family. 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 ragged\-red fibers in muscle, headache, small testes, secondary sexual findings, hearing impairment, visual abnormality and frequent miscarriages, melas with short stature, vomiting.

# 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\-F122 | A3243G\-F122\-I2 | Uninf | F | N | Y | A | 50 | 6% | 22% | / | 20%(ND) | Ragged\-red fibers in muscle | / |
| 2 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II1 | Fam | F | N | Y | A | 29 | 3% | 21% | / | 9%(ND) | Headache | / |
| 3 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II3 | Fam | M | N | Y | A | 25 | 25% | 45% | / | 30%(ND); 38%(ND) | Ragged\-red fibers in muscle; Small testes/secondary sexual findings | Positive male does not transmit mtDNA eligibility to III3\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II4 | Fam | F | N | Y | A | 23 | 33% | 48% | / | 26%(ND) | Hearing impairment, visual abnormality and frequent miscarriages | / |
| 5 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II5 | Fam | M | Y | Y | A | 17 | / | 89% | / | / | MELAS with short stature, headache, vomiting, hearing impairment, visual abnormality, seizure, lactic acidosis and hemiparesis | / |
| 6 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-III1 | Fam | F | N | N | A | 7 | 18% | / | / | 34%(ND) | Healthy | Healthy |
| 7 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-III2 | Fam | F | N | N | A | 3 | 0% | / | / | 0%(ND) | Healthy | Healthy |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).