T9176C-F4

**Figure 1\. Pedigree diagram for family T9176C\-F4\.**

![](/media/202607/T9176C-F4-pedigree_20260701004349662711.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\-F4 | Spain | Leigh syndrome | 3 | 1 | 1997 | [9270604](https://pubmed.ncbi.nlm.nih.gov/9270604/) |  |

The **m.9176T\>C** variant in MT\-ATP6 was reported in family T9176C\-F4 from Spain with leigh 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 leigh syndrome, died shortly after admission, developmental delay, progressive mental retardation, gait unsteadiness, nystagmus, pyramidal signs, ataxia.

# 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\-F4 | T9176C\-F4\-III1 | Fam | M | Y | Y | D | 4 | / | \>99% | / | / | Leigh syndrome; died shortly after admission |  |
| 2 | 9176 | m.9176T\>C | T9176C\-F4 | T9176C\-F4\-II2 | Fam | F | N | Y | A | 22 | 93% | / | / | / | Developmental delay; progressive mental retardation; gait unsteadiness; nystagmus; pyramidal signs; ataxia |  |
| 3 | 9176 | m.9176T\>C | T9176C\-F4 | T9176C\-F4\-II1 | Fam | M | N | N | A | ND | 88% | / | / | / | Healthy |  |
| 4 | 9176 | m.9176T\>C | T9176C\-F4 | T9176C\-F4\-I2 | Fam | F | N | N | A | ND | 76% | / | / | / | Healthy |  |
| 5 | 9176 | m.9176T\>C | T9176C\-F4 | T9176C\-F4\-I3 | Fam | F | N | N | A | ND | 15% | / | / | / | Healthy |  |

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