G5780A-F1

**Figure 1\. Pedigree diagram for family G5780A\-F1\.**

![](/media/202606/20260622005815763866.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5780 | m.5780G\>A | G5780A\-F1 | Finland | Sensorineural hearing impairment | 1 | 1 | 2003 | [12802679](https://pubmed.ncbi.nlm.nih.gov/12802679/) |  |

The **m.5780G\>A** variant in MT\-TC was reported in family G5780A\-F1 from Finland with sensorineural hearing impairment. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was sensorineural hearing impairment.

# 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 | 5780 | m.5780G\>A | G5780A\-F1 | G5780A\-F1\-I2 | Uninf | F | N | Y | A | ND | 92% | / | / | / | Sensorineural hearing impairment |  |
| 2 | 5780 | m.5780G\>A | G5780A\-F1 | G5780A\-F1\-II1 | Fam | F | N | N | A | 36 | 95% | / | / | / | Healthy |  |
| 3 | 5780 | m.5780G\>A | G5780A\-F1 | G5780A\-F1\-II2 | Fam | F | Y | Y | A | ND | 56% | 92% | / | 96%(BM) | Sensorineural hearing impairment |  |

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