G11778A-F676

**Figure 1\. Pedigree diagram for family G11778A\-F676\.**

![](/media/202606/20260630173842115014.png)

|  |
| --- |

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F676 | Germany | Young\-onset LHON | ND | ND | 2022 | [35190400](https://pubmed.ncbi.nlm.nih.gov/35190400/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F676 from Germany with young\-onset lhon. The pedigree record reported ND unaffected and ND 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 childhood\-onset lhon, age at onset \<\=12 years, early\-teenage\-onset lhon, age at onset 13\-16 years.

# 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 | 11778 | m.11778G\>A | G11778A\-F676 | G11778A\-F676\-II1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Childhood\-onset LHON, age at onset \<\=12 years | Original ID: ChO group; Coexisting variant: m.14484T\>C (two ChO patients) |
| 2 | 11778 | m.11778G\>A | G11778A\-F676 | G11778A\-F676\-II2 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Early\-teenage\-onset LHON, age at onset 13\-16 years | Original ID: eTO group |

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