C1494T-F1

**Figure 1\. Pedigree diagram for family C1494T\-F1\.**

![](/media/202607/C1494T-F1-pedigree_20260701022707060278.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1494 | m.1494C\>T | C1494T\-F1 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | 19 | 19 | 2004 | [14681830](https://pubmed.ncbi.nlm.nih.gov/14681830/) |  |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F1 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 19 unaffected and 19 affected maternal relatives, and the carrier table includes 39 listed carriers. Homoplasmy was reported in all listed carriers; 20/39 carriers were affected, and the main clinical manifestation among affected carriers was profound nonsyndromic hearing loss, mild hearing impairment, severe hearing impairment, profound hearing impairment, moderate hearing impairment, hearing impairment indicated by filled square.

# 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 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV21 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | Profound nonsyndromic hearing loss | Streptomycin exposure; aminoglycoside\-induced |
| 2 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II4 | Fam | F | ND | Y | ND | 81 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 3 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II6 | Fam | F | ND | Y | ND | 78 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 4 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II9 | Fam | F | ND | Y | ND | 74 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 5 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II11 | Fam | M | ND | Y | ND | 68 | Homo | / | / | / | Severe hearing impairment | aminoglycoside: Yes |
| 6 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III2 | Fam | F | ND | Y | ND | 60 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 7 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III8 | Fam | F | ND | Y | ND | 50 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 8 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III10 | Fam | F | ND | N | ND | 45 | Homo | / | / | / | Healthy |  |
| 9 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III12 | Fam | F | ND | Y | ND | 52 | Homo | / | / | / | Mild hearing impairment | mother of proband; aminoglycoside: No |
| 10 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III14 | Fam | F | ND | N | ND | 50 | Homo | / | / | / | Healthy |  |
| 11 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III16 | Fam | F | ND | N | ND | 46 | Homo | / | / | / | Healthy |  |
| 12 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III18 | Fam | F | ND | Y | ND | 57 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 13 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III24 | Fam | F | ND | Y | ND | 46 | Homo | / | / | / | Profound hearing impairment | aminoglycoside: Yes |
| 14 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III26 | Fam | M | ND | Y | ND | 42 | Homo | / | / | / | Moderate hearing impairment | aminoglycoside: Yes |
| 15 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV1 | Fam | M | ND | Y | ND | 44 | Homo | / | / | / | Severe hearing impairment | aminoglycoside: No |
| 16 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV13 | Fam | F | ND | Y | ND | 26 | Homo | / | / | / | Profound hearing impairment | aminoglycoside: Yes |
| 17 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV14 | Fam | F | ND | Y | ND | 26 | Homo | / | / | / | Profound hearing impairment | aminoglycoside: Yes |
| 18 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV16 | Fam | M | ND | Y | ND | 21 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 19 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV17 | Fam | M | ND | N | ND | 21 | Homo | / | / | / | Healthy |  |
| 20 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV18 | Fam | M | ND | N | ND | 16 | Homo | / | / | / | Healthy |  |
| 21 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV19 | Fam | M | ND | Y | ND | 29 | Homo | / | / | / | Profound hearing impairment | aminoglycoside: Yes |
| 22 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV22 | Fam | M | ND | N | ND | 20 | Homo | / | / | / | Healthy |  |
| 23 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV23 | Fam | M | ND | N | ND | 25 | Homo | / | / | / | Healthy |  |
| 24 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV28 | Fam | M | ND | Y | ND | 30 | Homo | / | / | / | Moderate hearing impairment | explicitly tested affected male; aminoglycoside: Yes |
| 25 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV32 | Fam | M | ND | N | ND | 21 | Homo | / | / | / | Healthy |  |
| 26 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-V8 | Fam | M | ND | N | ND | 1 | Homo | / | / | / | Healthy |  |
| 27 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III4 | Fam | M | N | Y | ND | 58 | Homo | / | / | / | Mild hearing impairment | aminoglycoside: No |
| 28 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II1 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 29 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II2 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 30 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-II8 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 31 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III6 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 32 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III20 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 33 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-III22 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 34 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV3 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 35 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV5 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 36 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV6 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |
| 37 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV24 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing impairment indicated by filled square | not listed in Table 1; in Figure 1 |
| 38 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV25 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing impairment indicated by filled square | not listed in Table 1; in Figure 1 |
| 39 | 1494 | m.1494C\>T | C1494T\-F1 | C1494T\-F1\-IV26 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | open symbol in Figure 1; not listed in Table 1 |

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