A2755G

# **General Information**

| **Position** | **2755** | **Variant** | **m.2755A\>G** | **Locus** | **MT\-RNR2** | **RNA** | **16S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | N/A | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.2755A\>G** variant in MT\-RNR2 has been reported in 1 pedigree. To date, 2 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included LHON, centrocecal scotoma, color vision defects, optic disc edema, poor vision of both eyes, right optic nerve MRI lesion, and telangiectatic microangiopathy.

| **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 |

# **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\-F](https://mitofam.com/doc/1494/)1 | 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. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).