G11778A-F313

**Figure 1\. Pedigree diagram for family G11778A\-F313\.**

![](/media/202606/20260630165352330152.png)

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# 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\-F313 | Thailand | LHON; FSHD | ND | ND | 2005 | [15804271](https://pubmed.ncbi.nlm.nih.gov/15804271/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F313 from Thailand with lhon; fshd. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 6/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss onset age 16, fshd, visual loss onset age 13, muscle weakness onset age 27, visual loss onset age 20, visual loss onset age 12, muscle weakness onset age 9\.

# 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\-F313 | G11778A\-F313\-III1 | Fam | M | N | Y | A | 18 | 61% | / | / | / | LHON; visual loss onset age 16 | Original carrier identifier: IIIa1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-II1 | Fam | F | N | Y | A | 49 | 70% | / | / | / | LHON; FSHD; visual loss onset age 13; muscle weakness onset age 27 | Original carrier identifier: IIa1 |
| 3 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III2 | Fam | F | N | N | A | 16 | 71% | / | / | / | FSHD; no visual loss | Original carrier identifier: IIIa2 |
| 4 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-II2 | Fam | M | N | Y | A | 41 | 69% | / | / | / | LHON; visual loss onset age 20 | Original carrier identifier: IIa2 |
| 5 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III3 | Fam | M | N | Y | A | 18 | 96% | / | / | / | LHON; FSHD; visual loss onset age 12; muscle weakness onset age 9 | Original carrier identifier: IIIa3 |
| 6 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-II3 | Fam | F | N | Y | A | 38 | 64% | / | / | / | LHON; FSHD; visual loss onset age 10; muscle weakness onset age 36 | Original carrier identifier: IIa3 |
| 7 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III4 | Fam | F | N | N | A | 10 | 99% | / | / | / | Healthy | Original carrier identifier: IIIa4 |
| 8 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-I1 | Uninf | F | Y | Y | A | 71 | 22% | / | / | / | LHON; FSHD; visual loss onset age 10; muscle weakness onset age 30 | Original carrier identifier: Ia |

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