A3243G-F350

**Figure 1\. Pedigree diagram for family A3243G\-F350\.**

![](/media/202607/A3243G-F350-pedigree_20260701030753293896.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\-F350 | USA | Autistic spectrum disorder/PDD with maternal A3243G evidence | 0 | 4 | 2004 | [14722523](https://pubmed.ncbi.nlm.nih.gov/14722523/) | / |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F350 from USA with autistic spectrum disorder/pdd with maternal a3243g evidence. The pedigree record reported 0 unaffected and 4 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was pdd, autistic spectrum disorder, hyperactivity, inattentiveness, poor eye contact, perseveration and hand stereotypies.

# 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\-F350 | A3243G\-F350\-II1 | Fam | M | Y | Y | A | 6 | 0% | / | 0% | 0%(ND); 0%(ND); 0%(ND) | PDD/autistic spectrum disorder; Hyperactivity, inattentiveness, poor eye contact, perseveration and hand stereotypies | Patient 1\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F350 | A3243G\-F350\-I1 | Uninf | F | N | ND | ND | ND | 0% | / | 5% | 0%(ND); 7%(ND); 6%(ND) | Clinical phenotype not detailed | Mother 1\. |

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