T15287C-F1

**Figure 1\. Pedigree diagram for family T15287C\-F1\.**

![](/media/202606/20260630163045709991.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15287 | m.15287T\>C | T15287C\-F1 | Spain | Hearing impairment | 5 | 5 | 2008 | [17999439](https://pubmed.ncbi.nlm.nih.gov/17999439/) | Co\-segregating m.1555A\>G; T15287C mutant load calculated as 100 \- Table 1 %T. |

The **m.15287T\>C** variant in MT\-CYB was reported in family T15287C\-F1 from Spain with hearing impairment. The pedigree record reported 5 unaffected and 5 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 6/11 carriers were affected, and the main clinical manifestation among affected carriers was mild hearing loss, onset unknown, onset 30, aminoglycoside exposure, severe hearing loss, onset 9, profound hearing loss, onset 5\.

# 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 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-I2 | Uninf | F | ND | N | D | 85 | 34\.2% | / | / | / | Healthy | Co\-occurring m.1555A\>G; C load \= 100 \- Table 1 %T. |
| 2 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II1 | Fam | F | ND | Y | A | 55 | 95\.3% | / | / | / | Mild hearing loss; onset unknown | C load \= 100 \- Table 1 %T. |
| 3 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II2 | Fam | M | ND | Y | A | 55 | 87\.1% | / | / | / | Mild hearing loss; onset 30; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 4 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II4 | Fam | F | ND | N | A | 57 | 90\.7% | / | / | 90\.2% (saliva) | Healthy | Blood/saliva C load \= 100 \- Table 1 %T. |
| 5 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II6 | Fam | F | ND | N | A | 59 | 36\.8% | / | / | 25\.7% (saliva) | Healthy | Blood/saliva C load \= 100 \- Table 1 %T. |
| 6 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III1 | Fam | M | ND | Y | A | 32 | 92\.7% | / | / | / | Severe hearing loss; onset 9; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 7 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III2 | Fam | F | ND | Y | A | 29 | 95\.3% | / | / | / | Profound hearing loss; onset 5; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 8 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III3 | Fam | M | ND | Y | A | 32 | 95\.3% | / | / | 95\.3% (saliva) | Severe hearing loss; onset 9; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 9 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III4 | Fam | M | ND | N | A | 20 | 2\.6% | / | / | 3\.1% (saliva) | Healthy | Low\-level pyrosequencing signal; Table 2 direct sequencing did not show this variant. |
| 10 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III5 | Fam | F | ND | N | A | 35 | 5\.9% | / | / | 6\.2% (saliva) | Healthy | Low\-level pyrosequencing signal. |
| 11 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III6 | Fam | F | ND | Y | A | 32 | 7\.8% | / | / | 12\.9% (saliva) | Unilateral moderate hearing loss; onset unknown | Low\-level pyrosequencing signal. |

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