C1494T-F5

**Figure 1\. Pedigree diagram for family C1494T\-F5\.**

![](/media/202607/C1494T-F5-pedigree_20260701022800156374.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\-F5 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | 11 | 1 | 2007 | [17698299](https://pubmed.ncbi.nlm.nih.gov/17698299/) | Family WZD103 |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F5 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 11 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was 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\-F5 | C1494T\-F5\-IV2 | Fam | F | Y | Y | A | 12 | Homo | / | / | / | Severe hearing loss | Original carrier ID: WZD103\-IV2; after gentamycin at age 2\.5 years |
| 2 | 1494 | m.1494C\>T | C1494T\-F5 | C1494T\-F5\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Moderate hearing loss |  |

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