C3571T-F1

**Figure 1\. Pedigree diagram for family C3571T\-F1\.**

![](/media/202606/20260630031559978187.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3571 | m.3571C\>T | C3571T\-F1 | China | LHON | 15 | 7 | 2012 | [22553750](https://pubmed.ncbi.nlm.nih.gov/22553750/) | Carrying G11778A and C3497T. |

The **m.3571C\>T** variant in MT\-ND1 was reported in family C3571T\-F1 from China with lhon. The pedigree record reported 15 unaffected and 7 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual acuity left 0\.12 right 0\.8, visual acuity left 0\.6 right 0\.4, visual acuity left 0\.01 right 0\.02, visual acuity left 0\.05 right 0\.09, visual acuity left 0\.03 right 0\.05, visual acuity left 0\.06 right 0\.01\.

# 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 | 3571 | m.3571C\>T | C3571T\-F1 | C3571T\-F1\-III2 | Fam | F | N | Y | A | 24 | Homo | / | / | / | LHON; visual acuity left 0\.12 right 0\.8 | Carrying G11778A and C3497T. |
| 2 | 3571 | m.3571C\>T | C3571T\-F1 | C3571T\-F1\-III4 | Fam | F | N | Y | A | 43 | Homo | / | / | / | LHON; visual acuity left 0\.6 right 0\.4 | Carrying G11778A and C3497T. |
| 3 | 3571 | m.3571C\>T | C3571T\-F1 | C3571T\-F1\-III5 | Fam | M | N | Y | A | 15 | Homo | / | / | / | LHON; visual acuity left 0\.01 right 0\.02 | Carrying G11778A and C3497T. |
| 4 | 3571 | m.3571C\>T | C3571T\-F1 | C3571T\-F1\-III8 | Fam | F | N | Y | A | 30 | Homo | / | / | / | LHON; visual acuity left 0\.05 right 0\.09 | Carrying G11778A and C3497T. |
| 5 | 3571 | m.3571C\>T | C3571T\-F1 | C3571T\-F1\-III10 | Fam | F | N | Y | A | 19 | Homo | / | / | / | LHON; visual acuity left 0\.03 right 0\.05 | Carrying G11778A and C3497T. |
| 6 | 3571 | m.3571C\>T | C3571T\-F1 | C3571T\-F1\-IV13 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON; visual acuity left 0\.06 right 0\.01 | Carrying G11778A and C3497T. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).