T8851C-F1

**Figure 1\. Pedigree diagram for family T8851C\-F1\.**

![](/media/202607/T8851C-F1-pedigree_20260701003940250987.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 | 8851 | m.8851T\>C | T8851C\-F1 | Czech Republic | Leigh syndrome; mitochondrial disease | 1 | 1 | 2013 | [23206802](https://pubmed.ncbi.nlm.nih.gov/23206802/) |  |

The **m.8851T\>C** variant in MT\-ATP6 was reported in family T8851C\-F1 from Czech Republic with leigh syndrome; mitochondrial disease. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was failure to thrive, microcephaly, psychomotor retardation, hypotonia, ataxia, leigh syndrome, peripheral neuropathy and muscle weakness since age 22\.

# 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 | 8851 | m.8851T\>C | T8851C\-F1 | T8851C\-F1\-II2 | Fam | F | N | N | A | 20 | 60% | / | / | 52%(BM) | Healthy |  |
| 2 | 8851 | m.8851T\>C | T8851C\-F1 | T8851C\-F1\-II1 | Fam | F | Y | Y | A | 3 | 92% | 97% | 87% | 95%(H); 92%(BM) | Failure to thrive; microcephaly; psychomotor retardation; hypotonia; ataxia; Leigh syndrome |  |
| 3 | 8851 | m.8851T\>C | T8851C\-F1 | T8851C\-F1\-I2 | Uninf | F | N | Y | A | 36 | 68% | / | 69% | 85%(BM); 96%(H) | Peripheral neuropathy and muscle weakness since age 22 |  |

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