G14685A-F1

**Figure 1\. Pedigree diagram for family G14685A\-F1\.**

![](/media/202606/20260626170839546685.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14685 | m.14685G\>A | G14685A\-F1 | UK | Early\-onset cataracts, pigmentary retinopathy, sensorineural hearing impairment, ataxia, progressive spastic paraparesis, leg pain, walking difficulty, incontinence, right\-sided weakness, aphasia, dysphagia, behavioral changes, sleep disturbance, confusion, head tremor | 1 | 0 | 2013 | [23334599](https://pubmed.ncbi.nlm.nih.gov/23334599/) |  |

The **m.14685G\>A** variant in MT\-TE was reported in family G14685A\-F1 from UK with early\-onset cataracts, pigmentary retinopathy, sensorineural hearing impairment, ataxia, progressive spastic paraparesis, leg pain, walking difficulty, incontinence, right\-sided weakness, aphasia, dysphagia, behavioral changes, sleep disturbance, confusion, head tremor. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was early\-onset bilateral cataracts, pigmentary retinopathy, sensorineural hearing impairment, leg pain, walking difficulty, incontinence, unsteady gait, ataxia.

# 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 | 14685 | m.14685G\>A | G14685A\-F1 | G14685A\-F1\-I2 | De novo | F | Y | Y | D | 45 | / | 44% | 24% | 7% (Heart) | Early\-onset bilateral cataracts, pigmentary retinopathy, sensorineural hearing impairment, leg pain, walking difficulty, incontinence, unsteady gait/ataxia, progressive spasticity, right\-sided weakness, aphasia, dysphagia, behavioral changes, sleep disturbance, acute confusion, poor speech, head tremor |  |
| 2 | 14685 | m.14685G\>A | G14685A\-F1 | G14685A\-F1\-II1 | Fam | F | N | N | A | teenaged | 0% | / | 0% | / | Healthy |  |

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