G3255A-F1

**Figure 1\. Pedigree diagram for family G3255A\-F1\.**

![](/media/202607/G3255A-F1-pedigree_20260701032126327098.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 | 3255 | m.3255G\>A | G3255A\-F1 | UK | MERRF, Kearns\-Sayre syndrome | 10 | 0 | 2003 | [12868503](https://pubmed.ncbi.nlm.nih.gov/12868503/) |  |

The **m.3255G\>A** variant in MT\-TL1 was reported in family G3255A\-F1 from UK with merrf, kearns\-sayre syndrome. The pedigree record reported 10 unaffected and 0 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 1/11 carriers were affected, and the main clinical manifestation among affected carriers was ensorineural deafness, atypical pigmentary retinopathy, myoclonus epilepsy, ptosis, ophthalmoparesis, migraine headaches, hypothyroidism, testosterone insufficiency.

# 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 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-I1 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-II1 | Fam | F | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 3 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-II2 | Fam | F | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 4 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-II3 | Fam | F | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 5 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-III1 | Fam | M | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 6 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-III2 | Fam | M | Y | Y | A | 12 | 22% | 53% | 67% | 2% (F) | Ensorineural deafness, atypical pigmentary retinopathy, myoclonus epilepsy, ptosis, ophthalmoparesis, migraine headaches, hypothyroidism, testosterone insufficiency |  |
| 7 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-III3 | Fam | M | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 8 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-III4 | Fam | F | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 9 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-V1 | Fam | M | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 10 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-V2 | Fam | M | N | N | A | ND | \<2% | / | / | / | Healthy |  |
| 11 | 3255 | m.3255G\>A | G3255A\-F1 | G3255A\-F1\-V3 | Fam | M | N | N | A | ND | \<2% | / | / | / | Healthy |  |

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