T9185C-F17

**Figure 1\. Pedigree diagram for family T9185C\-F17\.**

![](/media/202607/T9185C-F17-pedigree_20260701005040746663.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\-F17 | Canada | Leigh syndrome with ataxia/peripheral neuropathy | 3 | 7 | 2007 | [17352390](https://pubmed.ncbi.nlm.nih.gov/17352390/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F17 from Canada with leigh syndrome with ataxia/peripheral neuropathy. The pedigree record reported 3 unaffected and 7 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 8/11 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, seizures in infancy, encephalitis, weakness, respiratory and renal failure., ataxia and weakness, charcot\-marie\-tooth disease with ataxia., leigh syndrome..

# 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\-F17 | T9185C\-F17\-I1 | Uninf | F | N | N | A | ND | / | / | / | lymphoblast DNA: 52% | Healthy |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-II2 | Fam | F | N | Y | D | 10 | / | / | / | / | Leigh syndrome; seizures in infancy; encephalitis; weakness; respiratory and renal failure. |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-II3 | Fam | F | N | Y | A | ND | / | / | / | lymphoblast DNA: 86% | Ataxia and weakness; Charcot\-Marie\-Tooth disease with ataxia. |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-II4 | Fam | F | N | N | A | ND | / | / | / | lymphoblast DNA: 81% | Healthy |  |
| 5 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-II5 | Fam | F | N | Y | D | ND | / | / | / | / | Leigh syndrome. |  |
| 6 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-II7 | Fam | M | N | Y | A | 3 | / | / | / | lymphoblast DNA: 85% | Peripheral neuropathy/ataxia; poor gait onset 3; hypotonic ankle weakness; diminished joint position and vibration sense. |  |
| 7 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-III4 | Fam | F | N | Y | A | 10 | / | / | / | lymphoblast DNA: 90% | Intermittent acute ataxia; muscle weakness; ptosis. |  |
| 8 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-III5 | Fam | M | N | Y | A | 7 | / | / | / | lymphoblast DNA: 91% | Lassitude; partial ptosis; ataxia. |  |
| 9 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-III6 | Fam | M | N | N | A | ND | / | / | / | lymphoblast DNA: 17% | Healthy |  |
| 10 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-III7 | Fam | M | Y | Y | A | 8\.5 | \>90% | / | / | skin fibroblasts and lymphocytes: \>90%; lymphoblast DNA: 90% | Leigh syndrome; ataxia; frequent falls; slowed speech; basal ganglia lesions. |  |
| 11 | 9185 | m.9185T\>C | T9185C\-F17 | T9185C\-F17\-III8 | Fam | M | N | Y | A | 7 | \>90% | / | / | skin fibroblasts and lymphocytes: \>90%; lymphoblast DNA: 91% | Leigh syndrome/ataxia after viral illness; cerebellar MRI abnormality. |  |

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