A3243T-F1

**Figure 1\. Pedigree diagram for family A3243T\-F1\.**

![](/media/202606/20260630203101622785.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>T | A3243T\-F1 | UK | Progressive sensorineural hearing loss, recurrent keratitis, visual impairment, short stature, basal ganglia and corneal calcification, cataracts, epilepsy. | ND | ND | 2010 | [20471262](https://pubmed.ncbi.nlm.nih.gov/20471262/) |  |

The **m.3243A\>T** variant in MT\-TL1 was reported in family A3243T\-F1 from UK with progressive sensorineural hearing loss, recurrent keratitis, visual impairment, short stature, basal ganglia and corneal calcification, cataracts, epilepsy.. The pedigree record reported ND unaffected and ND 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 progressive sensorineural hearing loss, recurrent keratitis, visual impairment, short stature, basal ganglia and corneal calcification, cataracts, epilepsy..

# 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 | 3243 | m.3243A\>T | A3243T\-F1 | A3243T\-F1\-I2 | Uninf | F | N | N | A | ND | 12% | / | 24% | 54% (BM) | Healthy |  |
| 2 | 3243 | m.3243A\>T | A3243T\-F1 | A3243T\-F1\-II1 | Fam | M | Y | Y | A | 22 | 46% | 87% | 88% | 16% (BM) | Progressive sensorineural hearing loss, recurrent keratitis, visual impairment, short stature, basal ganglia and corneal calcification, cataracts, epilepsy. |  |

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