T12201C-F1

**Figure 1\. Pedigree diagram for family T12201C\-F1\.**

![](/media/202606/20260622142443783363.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12201 | m.12201T\>C | T12201C\-F1 | China | Late\-onset non\-syndromic deafness | 18 | 16 | 2011 | [21931169](https://pubmed.ncbi.nlm.nih.gov/21931169/) |  |

The **m.12201T\>C** variant in MT\-TH was reported in family T12201C\-F1 from China with late\-onset non\-syndromic deafness. The pedigree record reported 18 unaffected and 16 affected maternal relatives, and the carrier table includes 24 listed carriers. Homoplasmy was reported in 0/24 listed carriers; 17/24 carriers were affected, and the main clinical manifestation among affected carriers was moderate hearing loss, profound hearing loss, severe hearing loss.

# 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 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-II6 | Fam | F | N | Y | A | 81 | 28\.1% | / | / | / | Moderate hearing loss |  |
| 2 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-II12 | Fam | F | N | Y | A | 69 | 90\.4% | / | / | / | Profound hearing loss |  |
| 3 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III2 | Fam | F | N | Y | A | 72 | 88% | / | / | / | Profound hearing loss |  |
| 4 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III4 | Fam | F | N | Y | A | 63 | 88\.3% | / | / | / | Severe hearing loss |  |
| 5 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III6 | Fam | F | N | Y | A | 57 | 83\.6% | / | / | / | Profound hearing loss |  |
| 6 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III9 | Fam | M | N | Y | A | 64 | 94\.6% | / | / | / | Profound hearing loss |  |
| 7 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III11 | Fam | M | Y | Y | A | 52 | 57\.6% | / | / | / | Moderate hearing loss |  |
| 8 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III13 | Fam | M | N | Y | A | 44 | 65\.5% | / | / | / | Moderate hearing loss |  |
| 9 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III15 | Fam | M | N | Y | A | 46 | 95\.5% | / | / | / | Severe hearing loss |  |
| 10 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III17 | Fam | M | N | Y | A | 52 | 99\.7% | / | / | / | Severe hearing loss |  |
| 11 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-III20 | Fam | F | N | Y | A | 35 | 82\.4% | / | / | / | Severe hearing loss |  |
| 12 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV1 | Fam | M | N | Y | A | 44 | 94\.2% | / | / | / | Severe hearing loss |  |
| 13 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV3 | Fam | M | N | N | A | 37 | 31\.9% | / | / | / | Healthy |  |
| 14 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV6 | Fam | F | N | Y | A | 42 | 96\.7% | / | / | / | Severe hearing loss |  |
| 15 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV9 | Fam | M | N | Y | A | 41 | 64\.4% | / | / | / | Moderate hearing loss |  |
| 16 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV11 | Fam | M | N | Y | A | 39 | 99\.8% | / | / | / | Severe hearing loss |  |
| 17 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV14 | Fam | F | N | Y | A | 35 | 86\.7% | / | / | / | Severe hearing loss |  |
| 18 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV15 | Fam | M | N | Y | A | 35 | 60\.1% | / | / | / | Moderate hearing loss |  |
| 19 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV21 | Fam | M | N | N | A | 27 | 70\.4% | / | / | / | Healthy |  |
| 20 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV23 | Fam | F | N | N | A | 31 | 61\.8% | / | / | / | Healthy |  |
| 21 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-IV38 | Fam | M | N | N | A | 13 | 7\.2% | / | / | / | Healthy |  |
| 22 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-V4 | Fam | M | N | N | A | 22 | 23\.4% | / | / | / | Healthy |  |
| 23 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-V7 | Fam | F | N | N | A | 15 | 2\.2% | / | / | / | Healthy |  |
| 24 | 12201 | m.12201T\>C | T12201C\-F1 | T12201C\-F1\-V12 | Fam | F | N | N | A | 8 | 1\.9% | / | / | / | Healthy |  |

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