C1494T-F6

**Figure 1\. Pedigree diagram for family C1494T\-F6\.**

![](/media/202607/C1494T-F6-pedigree_20260701022808790135.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\-F6 | China | Aminoglycoside\-induced and nonsyndromic hearing impairment | 8 | 1 | 2007 | [17698030](https://pubmed.ncbi.nlm.nih.gov/17698030/) | Family BJ4; with G7444A |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F6 from China with aminoglycoside\-induced and nonsyndromic hearing impairment. The pedigree record reported 8 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 impairment, hearing deficit.

# 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\-F6 | C1494T\-F6\-III1 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Severe hearing impairment | Original carrier ID: BJ4\-III1; Carrying G7444A; after gentamycin at age 2\.5 years |
| 2 | 1494 | m.1494C\>T | C1494T\-F6 | C1494T\-F6\-II4 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing deficit | Original carrier ID: BJ4\-II\-4; without aminoglycoside exposure |

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