C1494T-F9

**Figure 1\. Pedigree diagram for family C1494T\-F9\.**

![](/media/202607/C1494T-F9-pedigree_20260701022834578994.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\-F9 | China | aminoglycoside\-induced and nonsyndromic hearing loss; functional cybrid evidence | ND | ND | 2005 | [15722487](https://pubmed.ncbi.nlm.nih.gov/15722487/) |  |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F9 from China with aminoglycoside\-induced and nonsyndromic hearing loss; functional cybrid evidence. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was symptomatic 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\-F9 | C1494T\-F9\-III14 | Fam | ND | N | N | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Healthy |  |
| 2 | 1494 | m.1494C\>T | C1494T\-F9 | C1494T\-F9\-III16 | Fam | ND | N | N | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Healthy |  |
| 3 | 1494 | m.1494C\>T | C1494T\-F9 | C1494T\-F9\-III18 | Fam | ND | ND | Y | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Symptomatic hearing loss |  |
| 4 | 1494 | m.1494C\>T | C1494T\-F9 | C1494T\-F9\-IV21 | Fam | ND | ND | Y | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Symptomatic hearing loss |  |
| 5 | 1494 | m.1494C\>T | C1494T\-F9 | C1494T\-F9\-IV28 | Fam | ND | ND | Y | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Symptomatic hearing loss |  |

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