G13051A

# **General Information**

| **Position** | **13051** | **Variant** | **m.13051G\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **G239S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"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.13051G\>A** variant in MT\-ND5 has been reported in 4 pedigrees. To date, 18 carriers have been reported. Homoplasmy was reported in 16/18 carriers (88\.9%), and 8/18 carriers (44\.4%) were affected. The main clinical manifestations among affected carriers included clinically affected by Figure 1A black symbol., lactic acidosis, severe neurologic phenotype, leigh syndrome, LHON, lHON optic neuropathy, leigh\-like syndrome, acute visual loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13051 | m.13051G\>A | G13051A\-F1 | Netherlands | LHON | 0 | 2 | 2003 | [12736867](https://pubmed.ncbi.nlm.nih.gov/12736867/) | Dutch pedigree S051 |
| 2 | 13051 | m.13051G\>A | [G13051A\-F2](https://mitofam.com/doc/1340/) | United Kingdom | Leigh syndrome / Leigh\-like encephalopathy / variable neurology | 2 | 2 | 2016 | [27164671](https://pubmed.ncbi.nlm.nih.gov/27164671/) | Figure 1A upper pedigree separated during pedigree G/H recheck; all maternally related individuals in the family tree reportedly harbored homoplasmic m.13051G\>A. |
| 3 | 13051 | m.13051G\>A | [G13051A\-F3](https://mitofam.com/doc/1341/) | United Kingdom | Leigh syndrome / Leigh\-like encephalopathy / variable neurology | 5 | 1 | 2016 | [27164671](https://pubmed.ncbi.nlm.nih.gov/27164671/) | Figure 1A lower pedigree separated during pedigree G/H recheck; all maternally related individuals in the family tree reportedly harbored homoplasmic m.13051G\>A. |
| 4 | 13051 | m.13051G\>A | G13051A\-F4 | Japan | LHON | 0 | 0 | 2024 | [38357617](https://pubmed.ncbi.nlm.nih.gov/38357617/) | Single case report; no heteroplasmy percentage in extracted text.; Single Japanese case; Clinical case and Sanger sequencing result.; Japanese case report |

# **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 | 13051 | m.13051G\>A | G13051A\-F1 | G13051A\-F1\-P1 | Fam | ND | ND | Y | ND | ND | / | / | / | Heteroplasmic(ND) | LHON optic neuropathy |  |
| 2 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-III1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leigh syndrome; lactic acidosis; severe neurologic phenotype | Supplement needed for exact demographics.; Main text severe child group.; Source: Patient 1 |
| 3 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-III2 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leigh syndrome; lactic acidosis; severe neurologic phenotype | Supplement needed for exact demographics.; Main text severe child group.; Source: Patient 2 |
| 4 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-I2 | Fam | F | N | ND | ND | ND | Homo | / | / | / | Possible case by Figure 1A gray symbol. | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified. |
| 5 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-II2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Clinically affected by Figure 1A black symbol. | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified. |
| 6 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-II3 | Fam | M | N | ND | ND | ND | Homo | / | / | / | Possible case by Figure 1A gray symbol. | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified. |
| 7 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-II4 | Fam | M | N | ND | ND | ND | Homo | / | / | / | Possible case by Figure 1A gray symbol. | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified. |
| 8 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-II5 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 9 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-III3 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 10 | 13051 | m.13051G\>A | G13051A\-F2 | G13051A\-F2\-III4 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Clinically affected by Figure 1A black symbol. | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified. |
| 11 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-III1 | Uninf | M | Y | Y | ND | ND | Homo | / | / | / | Leigh\-like syndrome; lactic acidosis; severe neurologic phenotype | Figure 1A lower pedigree; patient 5 had Leigh\-like phenotype and homoplasmic m.13051G\>A; moved from collapsed G13051A\-F2 during pedigree recheck. |
| 12 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-I2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 13 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-II2 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 14 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-II3 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 15 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-II4 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 16 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-III2 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Clinically affected by Figure 1A black symbol. | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified. |
| 17 | 13051 | m.13051G\>A | G13051A\-F3 | G13051A\-F3\-III3 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Homoplasmic m.13051G\>A in maternally related pedigree member by Figure 1A caption; exact tissue not individually specified.; Unaffected by Figure 1A open symbol. |
| 18 | 13051 | m.13051G\>A | G13051A\-F4 | G13051A\-F4\-P1 | Uninf | F | Y | Y | A | 24 | / | / | / | Positive(ND) | LHON; acute visual loss/optic neuropathy | Family history negative for LHON.; Case description and genetic testing paragraph.; Source: Patient |

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