G11778A-F346

**Figure 1\. Pedigree diagram for family G11778A\-F346\.**

![](/media/202606/20260630170308866019.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\-F346 | United Kingdom | Maternal family; heteroplasmic LHON mutation with dystonia phenotype | ND | ND | 2007 | [17724295](https://pubmed.ncbi.nlm.nih.gov/17724295/) | Coexisting variant: m.4716C\>G |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F346 from United Kingdom with maternal family; heteroplasmic lhon mutation with dystonia phenotype. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was progressive dystonia from 17 months, bilateral putaminal necrosis, complex i deficiency, no optic atrophy, progressive dystonia from age 3, wheelchair dependent, basal ganglia lesions, no visual impairment.

# 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\-F346 | G11778A\-F346\-II1 | Fam | F | Y | Y | ND | 22 | / | 86\.2% | / | / | Progressive dystonia from 17 months; bilateral putaminal necrosis; complex I deficiency; no optic atrophy | Original ID: Patient 1; Coexisting variant: m.4716C\>G |
| 2 | 11778 | m.11778G\>A | G11778A\-F346 | G11778A\-F346\-II2 | Fam | M | N | Y | ND | 19 | 86\.6% | / | / | / | Progressive dystonia from age 3; wheelchair dependent; basal ganglia lesions; no visual impairment | Original ID: Patient 2 |
| 3 | 11778 | m.11778G\>A | G11778A\-F346 | G11778A\-F346\-II3 | Fam | F | N | N | ND | ND | 85\.7% | / | / | / | Healthy |  |

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