A3243G-F352

**Figure 1\. Pedigree diagram for family A3243G\-F352\.**

![](/media/202607/A3243G-F352-pedigree_20260701030810822828.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\-F352 | USA | Infantile encephalopathy/autistic spectrum disorder with maternal A3243G evidence | 0 | 0 | 2004 | [14722523](https://pubmed.ncbi.nlm.nih.gov/14722523/) | Patients 3 and 4 are brothers. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F352 from USA with infantile encephalopathy/autistic spectrum disorder with maternal a3243g evidence. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was infantile encephalopathy, global developmental impairment, lactic acidosis, caudate, pallidum mri abnormalities, autism spectrum disorder, delayed language, repetitive behavior.

# 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\-F352 | A3243G\-F352\-II1 | Fam | M | Y | Y | A | 5 | 4% | 5% | 10% | 3\-12%(ND); 14%(ND) | Infantile encephalopathy; Global developmental impairment; Lactic acidosis; Caudate/pallidum MRI abnormalities; Autism spectrum disorder | Patient 3; one of two brothers. |
| 2 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-II2 | Fam | M | Y | Y | A | 2 | 0% | / | 0% | 27%(ND); 0%(ND); 0%(ND) | Autism spectrum disorder; Delayed language; Repetitive behavior; Normal neurologic and audiologic evaluation | Patient 4; younger brother of Patient 3\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-I1 | Uninf | F | N | ND | ND | ND | 0% | / | 0% | 3%(ND); 0%(ND); 0%(ND) | Clinical phenotype not detailed | Mother 3 and 4\. |
| 4 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-I2 | Uninf | F | N | ND | ND | ND | 10% | / | 0% | 22%(ND); 0%(ND); 0%(ND) | In the family of Patients 3 and 4; Clinical phenotype not detailed | Aunt 3 and 4; Maternal aunt |

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