A8411G-F1

**Figure 1\. Pedigree diagram for family A8411G\-F1\.**

![](/media/202606/20260630140453122429.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8411 | m.8411A\>G | A8411G\-F1 | Tunisia | Leukodystrophy; severe mitochondrial disorder | 0 | 0 | 2010 | [20207608](https://pubmed.ncbi.nlm.nih.gov/20207608/) |  |

The **m.8411A\>G** variant in MT\-ATP8 was reported in family A8411G\-F1 from Tunisia with leukodystrophy; severe mitochondrial disorder. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 1 listed carriers. Homoplasmy was reported in 0/1 listed carriers; 1/1 carriers were affected, and the main clinical manifestation among affected carriers was leukodystrophy, psychomotor delay, congenital deafness, spastic tetraplegia, seizures.

# 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 | 8411 | m.8411A\>G | A8411G\-F1 | A8411G\-F1\-III5 | De novo | M | Y | Y | D | 10 | 97% | / | / | / | Leukodystrophy; psychomotor delay; congenital deafness; spastic tetraplegia; seizures |  |

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