G7706A-F1

**Figure 1\. Pedigree diagram for family G7706A\-F1\.**

![](/media/202606/f4aae977d235480facac3485de15f22c6606.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7706 | m.7706G\>A | G7706A\-F1 | Finland | Alpers\-Huttenlocher\-like progressive cerebrohepatic disease | 3 | 1 | 2003 | [12612282](https://pubmed.ncbi.nlm.nih.gov/12612282/) |  |

The **m.7706G\>A** variant in MT\-CO2 was reported in family G7706A\-F1 from Finland with alpers\-huttenlocher\-like progressive cerebrohepatic disease. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was alpers\-huttenlocher\-like progressive cerebrohepatic disease, failure to thrive, cardiomyopathy, hepatomegaly, fatty liver, psychomotor delay, ataxia, tremor.

# 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 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-I1 | Uninf | F | Y | Y | D | 6 | 87% | 90% | / | 87%(heart); 90%(kidney); 91%(liver); 91%(brain); 88%(muscle clone) | Alpers\-Huttenlocher\-like progressive cerebrohepatic disease; failure to thrive, cardiomyopathy, hepatomegaly/fatty liver, psychomotor delay, ataxia, tremor, mental retardation, muscle weakness/exercise intolerance, lactic acidosis, cardiac arrest/brain death |  |
| 2 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-II1 | Fam | F | N | N | A | ND | 72% | 54\+/\-16% (single fibers) | / | / | Healthy/asymptomatic |  |
| 3 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-I2 | Uninf | F | N | N | A | ND | 66% | / | / | / | Healthy/asymptomatic |  |
| 4 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-II2 | Fam | F | N | Y | ND | ND | / | / | / | / | Down syndrome; diabetes; hypothyroidism |  |
| 5 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-II3 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy |  |

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