G11696A-F1

**Figure 1\. Pedigree diagram for family G11696A\-F1\.**

![](/media/202606/20260630154901840957.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 | 11696 | m.11696G\>A | G11696A\-F1 | Netherlands | LHON; dystonia | 4 | 9 | 1996 | [8644732](https://pubmed.ncbi.nlm.nih.gov/8644732/) | Coexisting variant: Coexisting homoplasmic m.14596T\>A (ND6\) |

The **m.11696G\>A** variant in MT\-ND4 was reported in family G11696A\-F1 from Netherlands with lhon; dystonia. The pedigree record reported 4 unaffected and 9 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 5/14 listed carriers; 10/14 carriers were affected, and the main clinical manifestation among affected carriers was neurological symptoms, lhon plus bilateral neurological symptoms, lhon plus unilateral neurological symptoms, muscle complex i deficiency, died age 59, lhon plus neurological symptoms, lhon.

# 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 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-V1 | Fam | M | N | Y | A | ND | 89% | / | / | / | Neurological symptoms | Coexisting variant: Coexisting mutation\-load note: 11% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 2 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-V2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON plus bilateral neurological symptoms | Coexisting variant: Coexisting mutation\-load note: 0% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 3 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON plus unilateral neurological symptoms | Coexisting variant: Coexisting mutation\-load note: 0% wild\-type in blood |
| 4 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI2 | Fam | F | N | N | A | ND | 85% | / | / | / | Healthy | Coexisting variant: Coexisting mutation\-load note: 15% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 5 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI3 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON plus bilateral neurological symptoms; muscle complex I deficiency | Coexisting variant: homoplasmic T14596A |
| 6 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI4 | Fam | M | N | N | A | ND | 89% | / | / | / | Healthy | Coexisting variant: Coexisting mutation\-load note: 11% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 7 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI5 | Fam | M | N | Y | A | ND | 77% | / | / | / | Neurological symptoms | Coexisting variant: Coexisting mutation\-load note: 23% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 8 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI6 | Fam | M | N | Y | D | ND | / | / | / | Homo(F); 88%(optic nerve) | LHON plus bilateral neurological symptoms; died age 59 | Coexisting variant: Coexisting mutation\-load note: No blood available |
| 9 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI7 | Fam | M | N | Y | A | ND | 88% | / | / | / | LHON plus bilateral neurological symptoms | Coexisting variant: Coexisting mutation\-load note: 12% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 10 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI8 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON plus neurological symptoms | Coexisting variant: Coexisting mutation\-load note: 0% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 11 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VI9 | Fam | F | N | N | A | ND | 86% | / | / | / | Healthy | Coexisting variant: Coexisting mutation\-load note: 14% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 12 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VII1 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON | Coexisting variant: Coexisting mutation\-load note: 0% wild\-type in blood. Additional homoplasmic variant: T14596A |
| 13 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VII2 | Fam | F | N | Y | A | ND | 87% | / | / | / | LHON | Coexisting variant: Coexisting mutation\-load note: 13% wild\-type in blood |
| 14 | 11696 | m.11696G\>A | G11696A\-F1 | G11696A\-F1\-VII3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Coexisting variant: Coexisting homoplasmic m.14596T\>A (ND6\) |

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