G11778A-F127

**Figure 1\. Pedigree diagram for family G11778A\-F127\.**

![](/media/202606/20260630163711883759.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\-F127 | Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family D |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F127 from Japan with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, optic atrophy.

# 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\-F127 | G11778A\-F127\-II1 | Fam | M | N | Y | ND | 16 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: D1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II2 | Fam | F | N | N | ND | 67 | Homo | / | / | / | Healthy | Original carrier identifier: D2 |
| 3 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II3 | Fam | M | N | Y | ND | 17 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: D3 |
| 4 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II4 | Fam | F | N | N | ND | 43 | Homo | / | / | / | Healthy | Original carrier identifier: D4 |
| 5 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II5 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: D5 |

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