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MT-TC
A5816G
A5816G-F2
A5816G-F1
C5820A
G5780A
G5780A-F1
G5783A
G5783A-F1
G5783A-F7
G5783A-F8
G5821A
G5821A-F4
G5821A-F3
G5821A-F2
G5821A-F1
T5789C
T5789C-F1
T5794C
T5802C
T5802C-F3
T5802C-F2
T5802C-F1
T5814C
T5814C-F5
T5814C-F4
T5814C-F3
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T5802C-F2
**Figure 1\. Pedigree diagram for family T5802C\-F2\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 5802 | m.5802T\>C | T5802C\-F2 | China | Deaf1555 increased penetrance | 8 | 4 | 2008 | [18386806](https://pubmed.ncbi.nlm.nih.gov/18386806/) | Carrying A1555G | The **m.5802T\>C** variant in MT\-TC was reported in family T5802C\-F2 from China with deaf1555 increased penetrance. The pedigree record reported 8 unaffected and 4 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in all listed carriers; 5/13 carriers were affected, and the main clinical manifestation among affected carriers was moderate hearing loss, severe hearing loss, profound 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 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 2 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II2 | fam | F | N | Y | A | 20 | Homo | / | / | / | Moderate hearing loss | Carrying A1555G | | 3 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II4 | fam | F | N | Y | A | 12 | Homo | / | / | / | Severe hearing loss | Carrying A1555G | | 4 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II5 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 5 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II6 | fam | M | N | Y | A | 2 | Homo | / | / | / | Profound hearing loss | Carrying A1555G | | 6 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II8 | fam | F | N | Y | A | 28 | Homo | / | / | / | Moderate hearing loss | Carrying A1555G | | 7 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III1 | fam | M | Y | Y | A | 1 | Homo | / | / | / | Profound hearing loss | Carrying A1555G | | 8 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III2 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 9 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III3 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 10 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III4 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 11 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III5 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 12 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III6 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | | 13 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III7 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月22日 11:39
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