T9152C-F1

**Figure 1\. Pedigree diagram for family T9152C\-F1\.**

![](/media/202607/T9152C-F1-pedigree_20260701004244005334.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 | 9152 | m.9152T\>C | T9152C\-F1 | USA | Autism/fatigue phenotype | 1 | 0 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) |  |

The **m.9152T\>C** variant in MT\-ATP6 was reported in family T9152C\-F1 from USA with autism/fatigue phenotype. 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, fatigue, gerd, constipation.

# 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 | 9152 | m.9152T\>C | T9152C\-F1 | T9152C\-F1\-II1 | Fam | ND | Y | Y | A | 20 | 23% | / | / | / | Autism; fatigue; GERD; constipation |  |
| 2 | 9152 | m.9152T\>C | T9152C\-F1 | T9152C\-F1\-I2 | Uninf | F | N | N | A | ND | 10% | / | / | / | Healthy |  |

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