G11778A-F377

**Figure 1\. Pedigree diagram for family G11778A\-F377\.**

![](/media/202606/20260630170852724279.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\-F377 | Netherlands | Ras\-MAPK syndrome with mitochondrial dysfunction; LHON risk | 1 | 0 | 2011 | [21063443](https://pubmed.ncbi.nlm.nih.gov/21063443/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F377 from Netherlands with ras\-mapk syndrome with mitochondrial dysfunction; lhon risk. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was short stature, muscle hypotonia and weakness, developmental and speech delay, hypertrophic cardiomyopathy, mixed conductive, sensorineural hearing loss, chronic ethylmalonic aciduria, cfc syndrome.

# 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\-F377 | G11778A\-F377\-II1 | Fam | F | Y | Y | A | 17 | / | Homo | / | / | Short stature; muscle hypotonia and weakness; developmental and speech delay; hypertrophic cardiomyopathy; mixed conductive/sensorineural hearing loss; chronic ethylmalonic aciduria; CFC syndrome; no reported LHON visual loss | Original ID: Patient 1, Pt PN11 |
| 2 | 11778 | m.11778G\>A | G11778A\-F377 | G11778A\-F377\-II2 | Fam | F | N | N | A | 48 | / | / | / | Homo(ND) | No ophthalmological complaints reported |  |

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