T9185C-F5

**Figure 1\. Pedigree diagram for family T9185C\-F5\.**

![](/media/202607/T9185C-F5-pedigree_20260701004740293311.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\-F5 | France | Leigh syndrome; preimplantation/prenatal diagnosis family | 1 | 0 | 2011 | [21473984](https://pubmed.ncbi.nlm.nih.gov/21473984/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F5 from France with leigh syndrome; preimplantation/prenatal diagnosis family. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was cerebellar ataxia, proximal tubulopathy, basal ganglia and cerebellar mri lesions, 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\-F5 | T9185C\-F5\-II1 | Fam | F | Y | Y | A | ND | 95% | 95% | 95% | 95%(BM) | Cerebellar ataxia; proximal tubulopathy; basal ganglia and cerebellar MRI lesions; Leigh syndrome |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F5 | T9185C\-F5\-I2 | Uninf | F | N | N | A | ND | 25% | / | 14% | 17%(BM) | Healthy |  |

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