C13565T-F1

**Figure 1\. Pedigree diagram for family C13565T\-F1\.**

![](/media/202607/C13565T-F1-pedigree_20260701013048852650.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 | 13565 | m.13565C\>T | C13565T\-F1 | Turkey | MELAS | 1 | 0 | 2007 | [17940288](https://pubmed.ncbi.nlm.nih.gov/17940288/) | Separate C13565T family from PMID 17940288; patient and mother both reported homoplasmic. |

The **m.13565C\>T** variant in MT\-ND5 was reported in family C13565T\-F1 from Turkey with melas. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas.

# 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 | 13565 | m.13565C\>T | C13565T\-F1 | C13565T\-F1\-II1 | Fam | F | Y | Y | A | ND | Homo | Homo | / | Homo(F) | MELAS | Daughter/proband; same report as A13528G family. |
| 2 | 13565 | m.13565C\>T | C13565T\-F1 | C13565T\-F1\-I2 | Fam | F | N | N | A | 65 | Homo | / | / | / | Healthy | Reported homoplasmic in blood; no disease signs described. |

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