G7970T-F1

**Figure 1\. Pedigree diagram for family G7970T\-F1\.**

![](/media/202606/db789ddc79074a6f8010c93701731c773746.png)
# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7970 | m.7970G\>T | G7970T\-F1 | Germany | Multisystem mitochondrial disease; COX deficiency | 2 | 0 | 2005 | [16288875](https://pubmed.ncbi.nlm.nih.gov/16288875/) |  |

The **m.7970G\>T** variant in MT\-CO2 was reported in family G7970T\-F1 from Germany with multisystem mitochondrial disease; cox deficiency. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was bilateral cataract, sensorineural hearing loss, myopathy, ataxia, cardiac arrhythmia, depression, short stature, metabolic coma.

# 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 | 7970 | m.7970G\>T | G7970T\-F1 | G7970T\-F1\-I1 | Uninf | M | Y | Y | D | 35 | / | 90% | / | / | Bilateral cataract, sensorineural hearing loss, myopathy, ataxia, cardiac arrhythmia, depression, short stature, metabolic coma, lactic acidosis |  |
| 2 | 7970 | m.7970G\>T | G7970T\-F1 | G7970T\-F1\-II1 | Fam | F | N | N | A | ND | 10%\-15% | / | / | / | Healthy |  |
| 3 | 7970 | m.7970G\>T | G7970T\-F1 | G7970T\-F1\-II2 | Fam | F | N | ND | A | ND | 10%\-15% | / | 10%\-15% | / | Mild motor developmental delay and learning difficulties after premature birth |  |

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