G12183A-F1

**Figure 1\. Pedigree diagram for family G12183A\-F1\.**

![](/media/202606/20260622142012865525.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12183 | m.12183G\>A | G12183A\-F1 | Italy | Pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, ataxia,audiometric defects,visual loss | 0 | 2 | 2003 | [12682337](https://pubmed.ncbi.nlm.nih.gov/12682337/) |  |

The **m.12183G\>A** variant in MT\-TH was reported in family G12183A\-F1 from Italy with pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, ataxia,audiometric defects,visual loss. The pedigree record reported 0 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 bilateral cataracts, temporal muscle hypotrophy, bilateral hearing defects, decreased scotopic erg components, hypoacusia, pigmentary retinopathy, progressive visual loss, blindness.

# 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 | 12183 | m.12183G\>A | G12183A\-F1 | G12183A\-F1\-I2 | De novo | F | N | Y | A | 56 | 12\.4% | / | / | / | Bilateral cataracts, temporal muscle hypotrophy, bilateral hearing defects, decreased scotopic ERG components |  |
| 2 | 12183 | m.12183G\>A | G12183A\-F1 | G12183A\-F1\-II1 | Fam | F | N | Y | A | 33 | 21\.2% | 87\.2% | / | / | Hypoacusia, pigmentary retinopathy, progressive visual loss |  |
| 3 | 12183 | m.12183G\>A | G12183A\-F1 | G12183A\-F1\-II2 | Fam | M | Y | Y | A | 30 | 38\.3% | / | / | / | Blindness, deafness, ataxia, pigmentary retinopathy, sensorineural hearing loss, muscle atrophy, hypogonadism, cataracts |  |

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