C1494T-F4

**Figure 1\. Pedigree diagram for family C1494T\-F4\.**

![](/media/202607/C1494T-F4-pedigree_20260701022751552757.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\-F4 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | 24 | 5 | 2007 | [17698299](https://pubmed.ncbi.nlm.nih.gov/17698299/) | Family WZD102 |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F4 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 24 unaffected and 5 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was profound congenital, birth\-onset hearing impairment, profound hearing loss, moderate hearing loss, severe 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\-F4 | C1494T\-F4\-IV1 | Fam | M | Y | Y | A | 19 | Homo | / | / | / | Profound congenital/birth\-onset hearing impairment | Original carrier ID: WZD102\-IV1 |
| 2 | 1494 | m.1494C\>T | C1494T\-F4 | C1494T\-F4\-III6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | after aminoglycoside exposure |
| 3 | 1494 | m.1494C\>T | C1494T\-F4 | C1494T\-F4\-III9 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Profound hearing loss | after aminoglycoside exposure |
| 4 | 1494 | m.1494C\>T | C1494T\-F4 | C1494T\-F4\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Moderate hearing loss | without aminoglycoside exposure |
| 5 | 1494 | m.1494C\>T | C1494T\-F4 | C1494T\-F4\-IV2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | without aminoglycoside exposure |
| 6 | 1494 | m.1494C\>T | C1494T\-F4 | C1494T\-F4\-IV3 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Moderate hearing loss | without aminoglycoside exposure |

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