C5601T-F9

**Figure 1\. Pedigree diagram for family C5601T\-F9\.**

![](/media/202606/20260625135956603483.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\-F9 | China | LHON | 7 | 3 | 2020 | [31939618](https://pubmed.ncbi.nlm.nih.gov/31939618/) | Carrying G11778A |

The **m.5601C\>T** variant in MT\-TA was reported in family C5601T\-F9 from China with lhon. The pedigree record reported 7 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was painless bilateral vision loss, color differentiation difficulty, centrocecal scotoma, visual impairment was profound, visual impairment was moderate, visual impairment was severe..

# 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\-F9 | C5601T\-F9\-II12 | Fam | F | Y | Y | A | 39 | Homo | / | / | / | Painless bilateral vision loss, color differentiation difficulty, centrocecal scotoma | Carrying G11778A |
| 2 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-III8 | Fam | M | N | Y | A | 7 | Homo | / | / | / | Visual impairment was profound | Carrying G11778A |
| 3 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-II7 | Fam | M | N | Y | A | 33 | Homo | / | / | / | Visual impairment was moderate | Carrying G11778A |
| 4 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-II5 | Fam | M | N | Y | A | 35 | Homo | / | / | / | Visual impairment was severe. | Carrying G11778A |

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