G14439A

# **General Information**

| **Position** | **14439** | **Variant** | **m.14439G\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **P79S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.14439G\>A** variant in MT\-ND6 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 1/2 carriers (50%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included leigh disease, leigh syndrome, basal ganglia MRI changes, bedridden, gait difficulty, high lactate, isolated complex I deficiency, and progressive motor regression.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14439 | m.14439G\>A | G14439A\-F1 | Japan | Leigh disease | 0 | 0 | 2014 | [25356405](https://pubmed.ncbi.nlm.nih.gov/25356405/) |  |
| 2 | 14439 | m.14439G\>A | G14439A\-F2 | Japan | Leigh syndrome | 0 | 0 | 2017 | [28429146](https://pubmed.ncbi.nlm.nih.gov/28429146/) |  |

# **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 | 14439 | m.14439G\>A | G14439A\-F1 | G14439A\-F1\-P1 | De novo | F | Y | Y | ND | 1 year | / | / | / | Homo (F) | Leigh disease; gait difficulty; high lactate; basal ganglia MRI changes; progressive motor regression; bedridden | Original label Pt377 |
| 2 | 14439 | m.14439G\>A | G14439A\-F2 | G14439A\-F2\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | 100% (F) | Leigh syndrome; isolated complex I deficiency | Original label Pt377 |

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