G9907A-F1

**Figure 1\. Pedigree diagram for family G9907A\-F1\.**

![](/media/202606/a089cd5a97ea426996548933b2d90e883442.png)
# Pedigree Information

| **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 | Italy | Cavitating leukoencephalopathy; mitochondrial disease; complex IV deficiency | 0 | 1 | 2023 | [37038312](https://pubmed.ncbi.nlm.nih.gov/37038312/) |  |

The **m.9907G\>A** variant in MT\-CO3 was reported in family G9907A\-F1 from Italy with cavitating leukoencephalopathy; mitochondrial disease; complex iv deficiency. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was psychomotor delay, hypotonia, retinopathy, hypoacusia, hyperlactacidemia, supratentorial cavitating leukoencephalopathy, isolated complex iv defect in muscle and fibroblasts, hypomimia.

# 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 |  |

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