C1494T-F3

**Figure 1\. Pedigree diagram for family C1494T\-F3\.**

![](/media/202607/C1494T-F3-pedigree_20260701022742816164.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\-F3 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | 28 | 10 | 2007 | [17698299](https://pubmed.ncbi.nlm.nih.gov/17698299/) | Family WZD101 |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F3 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 28 unaffected and 10 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in all listed carriers; 11/11 carriers were affected, and the main clinical manifestation among affected carriers was profound hearing loss, mild hearing loss, severe hearing loss, moderate 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 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV16 | Fam | F | Y | Y | A | 14 | Homo | / | / | / | Profound hearing loss | Original carrier ID: WZD101\-IV16; after gentamycin at age 1 |
| 2 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-III12 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Mild hearing loss |  |
| 3 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV6 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | after gentamycin exposure |
| 4 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-III6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | after gentamycin exposure |
| 5 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV1 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | without aminoglycoside exposure |
| 6 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV7 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | without aminoglycoside exposure |
| 7 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV8 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | without aminoglycoside exposure |
| 8 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV20 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | without aminoglycoside exposure |
| 9 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-III15 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | without aminoglycoside exposure |
| 10 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-III17 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | without aminoglycoside exposure |
| 11 | 1494 | m.1494C\>T | C1494T\-F3 | C1494T\-F3\-IV15 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Moderate hearing loss | without aminoglycoside exposure |

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