C5601T-F10

**Figure 1\. Pedigree diagram for family C5601T\-F10\.**

![](/media/202606/20260625140023374146.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\-F10 | China | NSHL | 4 | 3 | 2022 | [35218233](https://pubmed.ncbi.nlm.nih.gov/35218233/) | Carrying T12311C |

The **m.5601C\>T** variant in MT\-TA was reported in family C5601T\-F10 from China with nshl. The pedigree record reported 4 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 level of hearing loss is mild, level of hearing loss is profound.

# 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\-F10 | C5601T\-F10\-IV4 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | Level of hearing loss is mild | Carrying T12311C |
| 2 | 5601 | m.5601C\>T | C5601T\-F10 | C5601T\-F10\-II2 | Fam | F | N | Y | A | 75 | Homo | / | / | / | Level of hearing loss is profound | Carrying T12311C |
| 3 | 5601 | m.5601C\>T | C5601T\-F10 | C5601T\-F10\-III1 | Fam | M | N | Y | A | 50 | Homo | / | / | / | Level of hearing loss is profound | Carrying T12311C |

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