T9185C-F28

**Figure 1\. Pedigree diagram for family T9185C\-F28\.**

| Pedigree diagram for family T9185C-F28 |
| --- |

![](/media/202607/T9185C-F28-pedigree_20260701005148114926.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\-F28 | Poland | Leigh syndrome / mitochondrial disorder; ptosis and sudden neurological regression | 1 | 0 | 2016 | [27290639](https://pubmed.ncbi.nlm.nih.gov/27290639/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F28 from Poland with leigh syndrome / mitochondrial disorder; ptosis and sudden neurological regression. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 1/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was ptosis, sudden neurological regression, typical leigh syndrome changes on brain autopsy, psen1\-related early alzheimer disease.

# 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\-F28 | T9185C\-F28\-II1 | Fam | M | Y | Y | D | 9 y | Homo | / | / | / | Ptosis; sudden neurological regression; typical Leigh syndrome changes on brain autopsy |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F28 | T9185C\-F28\-I2 | Uninf | F | N | Y | A | ND | \+ | / | / | / | PSEN1\-related early Alzheimer disease | Carrying PSEN1 |
| 3 | 9185 | m.9185T\>C | T9185C\-F28 | T9185C\-F28\-II2 | Fam | M | N | N | A | ND | \+ | / | / | / | Healthy |  |

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