G9907A

# **General Information**

| **Position** | **9907** | **Variant** | **m.9907G\>A** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **G234D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\+ | **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.9907G\>A** variant in MT\-CO3 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 1/2 carriers (50%), and 2/2 carriers (100%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (69%) than in blood (2\.3%). The main clinical manifestations among affected carriers included hypotonia, hypomimia, mRI focal gliosis, psychomotor delay, hyperlactacidemia, hypoacusia, isolated complex IV defect in muscle and fibroblasts, neuropathy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9907 | m.9907G\>A |[ G9907A\-F1](https://mitofam.com/doc/1674/) | Italy | Cavitating leukoencephalopathy; mitochondrial disease; complex IV deficiency | 0 | 1 | 2023 | [37038312](https://pubmed.ncbi.nlm.nih.gov/37038312/) |  |

# **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 | 9907 | m.9907G\>A | G9907A\-F1 | G9907A\-F1\-II1 | Uninf | ND | Y | Y | A | 6 | Homo(lymphocytes 100%) | Homo(100%) | Homo(UEC 100%) | Fibroblasts Homo (100%) | Psychomotor delay; hypotonia; retinopathy; hypoacusia; hyperlactacidemia; supratentorial cavitating leukoencephalopathy; isolated complex IV defect in muscle and fibroblasts |  |
| 2 | 9907 | m.9907G\>A | G9907A\-F1 | G9907A\-F1\-I1 | Uninf | F | N | Y | A | ND | 2\.3% | / | 69% | / | Hypomimia; rhinolalia; hypotonia; neuropathy; MRI focal gliosis |  |

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