G13042A

# **General Information**

| **Position** | **13042** | **Variant** | **m.13042G\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **A236T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.13042G\>A** variant in MT\-ND5 has been reported in 4 pedigrees. To date, 15 carriers have been reported. Reported mutation loads ranged from 0% to 96%, with a median of 11% overall; affected carriers showed mutation loads from 0% to 96%, with a median of 57\.5%; unaffected carriers showed mutation loads from 0% to 28%, with a median of 3%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (91%) and urine (39%) than in blood (4%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (41%) than in blood (3%). Similar tissue\-specific differences were observed in 4 additional carriers. The main clinical manifestations among affected carriers included mild maculopathy, ataxia, cataract., hypotony, lHON\-like optic neuropathy, lHON\-like optic neuropathy., leigh syndrome, leigh\-like phenotype, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13042 | m.13042G\>A | G13042A\-F1 | United States | MELAS/MERRF overlap | 0 | 1 | 2005 | [15767514](https://pubmed.ncbi.nlm.nih.gov/15767514/) |  |
| 2 | 13042 | m.13042G\>A | [G13042A\-F2](https://mitofam.com/doc/1337/) | Italy | LHON\-like optic neuropathy / ocular phenotype | 8 | 3 | 2006 | [16816025](https://pubmed.ncbi.nlm.nih.gov/16816025/) |  |
| 3 | 13042 | m.13042G\>A | [G13042A\-F3](https://mitofam.com/doc/1338/) | Netherlands | Leigh\-like disease | 2 | 0 | 2007 | [17400793](https://pubmed.ncbi.nlm.nih.gov/17400793/) | Family 2; Family 2 description.; Netherlands; Maastricht/Erasmus mitochondrial diagnostic cohort. |
| 4 | 13042 | m.13042G\>A | G13042A\-F4 | Czech Republic | Leigh syndrome | 0 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P6 family; Table 1\.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |

# **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 | 13042 | m.13042G\>A | G13042A\-F1 | G13042A\-F1\-P1 | Uninf | M | Y | Y | A | 25 years | 50% | 90% | / | / | Seizures, recurrent stroke\-like episodes, myoclonus, exercise intolerance, headaches, osteoporosis/fractures, dysarthria, weakness, ataxia |  |
| 2 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV4 | Fam | F | Y | Y | A | 60 years | 4% | 91% | 39% | / | LHON\-like optic neuropathy, migraine, retinopathy and cataract. |  |
| 3 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV7 | Fam | M | N | Y | A | 56 years | 3% | / | 41% | / | LHON\-like optic neuropathy. |  |
| 4 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV2 | Fam | F | N | Y | A | 64 years | 0% | / | 4% | / | Mild maculopathy/cataract; no optic neuropathy reported. |  |
| 5 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV6 | Fam | M | N | Y | A | 59 years | 3% | / | 43% | / | Mild maculopathy/cataract. |  |
| 6 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV11 | Fam | F | N | Y | A | 54 years | 0% | / | 20% | / | Mild maculopathy/cataract. |  |
| 7 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-IV14 | Fam | F | N | N | A | ND | 0% | / | 4% | / | Healthy |  |
| 8 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V5 | Fam | F | N | N | A | ND | 0% | / | 0% | / | Healthy |  |
| 9 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V6 | Fam | M | N | N | A | ND | 0% | / | 3% | / | Healthy |  |
| 10 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V12 | Fam | F | N | N | A | ND | 9% | / | 28% | / | Healthy |  |
| 11 | 13042 | m.13042G\>A | G13042A\-F2 | G13042A\-F2\-V13 | Fam | F | N | N | A | ND | 0% | / | 0% | / | Healthy |  |
| 12 | 13042 | m.13042G\>A | G13042A\-F3 | G13042A\-F3\-III1 | Fam | M | Y | Y | A | onset 3 y | 77% | 84% | / | 86%(F) | Ataxia; internuclear ophthalmoplegia; walking problems; Leigh\-like phenotype | Family 2 description.; Source: Patient 2; Complex I/V deficiency. |
| 13 | 13042 | m.13042G\>A | G13042A\-F3 | G13042A\-F3\-II2 | Fam | F | N | N | A | ND | 11% | / | / | 25%(H) | Healthy | Family 2 description.; Source: Mother |
| 14 | 13042 | m.13042G\>A | G13042A\-F3 | G13042A\-F3\-I2 | Fam | F | N | N | A | ND | \<2% | 4\-6% | / | / | Healthy | Family 2 description.; Source: Maternal grandmother |
| 15 | 13042 | m.13042G\>A | G13042A\-F4 | G13042A\-F4\-P1 | Uninf | F | Y | Y | A | onset 6 m; alive 6\.5 y | 96% | 96% | 89% | 65%(F); 90%(H); 93%(BM) | Hypotony; Leigh syndrome | Table 1; text says surviving LS children P6/P13 are girls.; Source: P6 |

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