C5601T-F11

**Figure 1\. Pedigree diagram for family C5601T\-F11\.**

![](/media/202606/20260625140050070257.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5601 | m.5601C\>T | C5601T\-F11 | China | T2DM | 3 | 3 | 2023 | [37371486](https://pubmed.ncbi.nlm.nih.gov/37371486/) | Carrying G11696A, T5813C |

The **m.5601C\>T** variant in MT\-TA was reported in family C5601T\-F11 from China with t2dm. The pedigree record reported 3 unaffected and 3 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was late\-onset t2dm, high hba1c, early\-onset t2dm.

# 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 | 5601 | m.5601C\>T | C5601T\-F11 | C5601T\-F11\-II1 | Fam | M | N | Y | A | 65 | Homo | / | / | / | Late\-onset T2DM | Carrying G11696A, T5813C |
| 2 | 5601 | m.5601C\>T | C5601T\-F11 | C5601T\-F11\-II4 | Fam | F | N | Y | A | 68 | Homo | / | / | / | Late\-onset T2DM, high HbA1c | Carrying G11696A, T5813C |
| 3 | 5601 | m.5601C\>T | C5601T\-F11 | C5601T\-F11\-III6 | Fam | F | Y | Y | A | 40 | Homo | / | / | / | Early\-onset T2DM | Carrying G11696A, T5813C |

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