A9058G-F1

**Figure 1\. Pedigree diagram for family A9058G\-F1\.**

![](/media/202607/A9058G-F1-pedigree_20260701003552140282.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 | 9058 | m.9058A\>G | A9058G\-F1 | USA | Neurodevelopmental disease | 1 | 0 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) | co\-carrier m.9133G\>A. |

The **m.9058A\>G** variant in MT\-ATP6 was reported in family A9058G\-F1 from USA with neurodevelopmental disease. The pedigree record reported 1 unaffected and 0 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 autism, intellectual disability, epilepsy, congenital cataracts..

# 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 | 9058 | m.9058A\>G | A9058G\-F1 | A9058G\-F1\-II1 | Fam | ND | Y | Y | A | 13 | 100% | / | / | / | Autism; intellectual disability; epilepsy; congenital cataracts. | Co\-carrier m.9133G\>A. |
| 2 | 9058 | m.9058A\>G | A9058G\-F1 | A9058G\-F1\-I2 | Uninf | F | N | N | A | ND | 100% | / | / | / | Healthy. | Co\-carrier m.9133G\>A. |

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