T9185C-F15

**Figure 1\. Pedigree diagram for family T9185C\-F15\.**

![](/media/202607/T9185C-F15-pedigree_20260701004954201724.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 | 9185 | m.9185T\>C | T9185C\-F15 | Poland | Late\-onset Leigh syndrome; hyperventilation | 1 | 1 | 2018 | [29116603](https://pubmed.ncbi.nlm.nih.gov/29116603/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F15 from Poland with late\-onset leigh syndrome; hyperventilation. 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 leigh syndrome, acute imbalance, severe weakness and sudden death, ad diagnosis with atypical dysarthria, swallowing problems, seizures, spasticity and dystonia, ls excluded.

# 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 | 9185 | m.9185T\>C | T9185C\-F15 | T9185C\-F15\-F2\-II1 | Fam | M | Y | Y | D | 9 | / | / | / | / | Leigh syndrome; acute imbalance, severe weakness and sudden death |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F15 | T9185C\-F15\-F2\-II2 | Fam | M | N | N | A | 18 | \>97% | / | / | / | Healthy |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F15 | T9185C\-F15\-F2\-I2 | Fam | F | N | Y | A | 40 | \>97% | / | \>97% | / | AD diagnosis with atypical dysarthria, swallowing problems, seizures, spasticity and dystonia; LS excluded |  |

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