G10197A-F3

**Figure 1\. Pedigree diagram for family G10197A\-F3\.**

![](/media/202606/20260629232344842913.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 | 10197 | m.10197G\>A | G10197A\-F3 | France | Leigh syndrome, dystonia | 1 | 2 | 2007 | [17152068](https://pubmed.ncbi.nlm.nih.gov/17152068/) |  |

The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F3 from France with leigh syndrome, dystonia. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was undetermined mitochondrial diseases, seizures and developmental delay, leigh syndrome, motor delay, hypotonia, seizures.

# 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 | 10197 | m.10197G\>A | G10197A\-F3 | G10197A\-F3\-Ⅰ1 | Uninf | F | N | Y | A | 37 y | 74% | 96% | / | / | Undetermined mitochondrial diseases |  |
| 2 | 10197 | m.10197G\>A | G10197A\-F3 | G10197A\-F3\-Ⅱ1 | Fam | F | N | N | A | 7 y | 73% | / | / | / | Healthy |  |
| 3 | 10197 | m.10197G\>A | G10197A\-F3 | G10197A\-F3\-Ⅱ2 | Fam | F | N | Y | A | 5 y | 100% | / | / | / | Seizures and developmental delay |  |
| 4 | 10197 | m.10197G\>A | G10197A\-F3 | G10197A\-F3\-Ⅱ3 | Fam | M | Y | Y | D | 11 mo | 100% | 100% | / | / | Leigh syndrome, motor delay/hypotonia, seizures |  |

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