T9176C-F16

**Figure 1\. Pedigree diagram for family T9176C\-F16\.**

![](/media/202607/T9176C-F16-pedigree_20260701004519624220.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 | 9176 | m.9176T\>C | T9176C\-F16 | USA | Familial bilateral striatal necrosis; Leigh\-like syndrome | 3 | 1 | 1995 | [7668837](https://pubmed.ncbi.nlm.nih.gov/7668837/) |  |

The **m.9176T\>C** variant in MT\-ATP6 was reported in family T9176C\-F16 from USA with familial bilateral striatal necrosis; leigh\-like syndrome. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was bilateral striatal necrosis, leigh\-like syndrome, developmental delay, dystonia, external ophthalmoparesis, basal ganglia mri lesions., learning disability, speech.

# 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 | 9176 | m.9176T\>C | T9176C\-F16 | T9176C\-F16\-II1 | Fam | M | Y | Y | A | 6 | \>99% | \>99% | / | \>99%(F) | Bilateral striatal necrosis; Leigh\-like syndrome; developmental delay; dystonia; external ophthalmoparesis; basal ganglia MRI lesions. |  |
| 2 | 9176 | m.9176T\>C | T9176C\-F16 | T9176C\-F16\-II2 | Fam | M | N | Y | A | 11 | 98% | / | / | / | Bilateral striatal necrosis; learning disability; speech/language regression; motor incoordination; basal ganglia MRI lesions. |  |
| 3 | 9176 | m.9176T\>C | T9176C\-F16 | T9176C\-F16\-I2 | Uninf | F | N | N | A | ND | 7% | / | / | / | Healthy. |  |
| 4 | 9176 | m.9176T\>C | T9176C\-F16 | T9176C\-F16\-II3 | Fam | M | N | N | A | 13 | 55% | / | / | / | Healthy. |  |
| 5 | 9176 | m.9176T\>C | T9176C\-F16 | T9176C\-F16\-II4 | Fam | F | N | N | A | 7 | 76% | / | / | / | Healthy. |  |

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