C1494T-F8

**Figure 1\. Pedigree diagram for family C1494T\-F8\.**

![](/media/202607/C1494T-F8-pedigree_20260701022826019847.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\-F8 | China | aminoglycoside\-induced and nonsyndromic hearing loss | 4 | 2 | 2020 | [32400865](https://pubmed.ncbi.nlm.nih.gov/32400865/) | Family 32400865 |

The **m.1494C\>T** variant in MT\-RNR1 was reported in family C1494T\-F8 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 4 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was profound hearing loss, severe hearing loss, neomycin exposure at age 21\.

# 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\-F8 | C1494T\-F8\-II6 | Fam | F | N | Y | ND | 66 | / | / | / | / | Profound hearing loss | no aminoglycoside exposure reported |
| 2 | 1494 | m.1494C\>T | C1494T\-F8 | C1494T\-F8\-III4 | Fam | F | Y | Y | ND | 41 | / | / | / | / | Severe hearing loss | gentamycin exposure around age 16 |
| 3 | 1494 | m.1494C\>T | C1494T\-F8 | C1494T\-F8\-III6 | Fam | F | N | Y | ND | 35 | / | / | / | / | Profound hearing loss; neomycin exposure at age 21 |  |

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