G14600A

# **General Information**

| **Position** | **14600** | **Variant** | **m.14600G\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **P25L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **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.14600G\>A** variant in MT\-ND6 has been reported in 1 pedigree. To date, 7 carriers have been reported. Homoplasmy was reported in 1/7 carriers (14\.3%), and 6/7 carriers (85\.7%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in fibroblasts (15%) than in blood (5%). The main clinical manifestations among affected carriers included progressive encephalopathy with MRI features consistent with Leigh syndrome, leigh syndrome, optic atrophy, subtle psychiatric symptoms, basal nuclei and brainstem lesions, developmental delay, dystonia, lactic acidosis, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14600 | m.14600G\>A | [G14600A\-F1](https://mitofam.com/doc/2126/) | Italy | Leigh syndrome | 1 | 5 | 2007 | [17535832](https://pubmed.ncbi.nlm.nih.gov/17535832/) | Fig. 1B |

# **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 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III4 | Fam | F | Y | Y | D | 8 mo | / | Homo | / | Homo (F) | Leigh syndrome; sensory\-neural deafness; developmental delay; severe hypotonia; dystonia; ocular apraxia; lactic acidosis; basal nuclei and brainstem lesions; seizures; respiratory failure | Original label P2 |
| 2 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-II1 | Fam | F | N | Y | A | ND | 5% | / | / | 15% (F) | Subtle psychiatric symptoms |  |
| 3 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-II2 | Fam | F | N | Y | A | ND | 50% | / | / | / | Optic atrophy; mild cerebellar atrophy |  |
| 4 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III2 | Fam | F | N | Y | D | ND | / | / | / | / | Progressive encephalopathy with MRI features consistent with Leigh syndrome |  |
| 5 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III3 | Fam | F | N | Y | D | ND | / | / | / | / | Progressive encephalopathy with MRI features consistent with Leigh syndrome |  |
| 6 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III1 | Fam | M | N | Y | D | ND | / | / | / | / | Progressive encephalopathy with MRI features consistent with Leigh syndrome |  |
| 7 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-I1 | Fam | F | N | N | A | ND | 10% | / | / | / | Healthy |  |

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