A2755G-F1

**Figure 1\. Pedigree diagram for family A2755G\-F1\.**

![](/media/202607/A2755G-F1-pedigree_20260701022635374160.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 | 2755 | m.2755A\>G | A2755G\-F1 | Serbian | Leber hereditary optic neuropathy | 1 | 0 | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | Carrying m.11778G\>A |

The **m.2755A\>G** variant in MT\-RNR2 was reported in family A2755G\-F1 from Serbian with leber hereditary optic neuropathy. 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 lhon, poor vision of both eyes, centrocecal scotoma, color vision defects, optic disc edema, telangiectatic microangiopathy, right optic nerve mri lesion.

# 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 | 2755 | m.2755A\>G | A2755G\-F1 | A2755G\-F1\-I2 | Uninf | F | N | N | A | 39 | present; load not reported | / | / | / | Asymptomatic; normal visual acuity; several tortuous capillaries along optic nerve disc; QT interval slightly prolonged | Mother of P2; Figure 1 marks I:2 as an asymptomatic m.11778G\>A mutation carrier; A2755G co\-reported with primary m.11778G\>A; target\-specific load not quantified. |
| 2 | 2755 | m.2755A\>G | A2755G\-F1 | A2755G\-F1\-II1 | Fam | M | Y | Y | A | 13 | present; load not reported | / | / | / | LHON; poor vision of both eyes; centrocecal scotoma; color vision defects; optic disc edema/telangiectatic microangiopathy; right optic nerve MRI lesion | Proband P2; A2755G is an associated mutation, co\-reported with primary LHON m.11778G\>A. |

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