G10197A-F13

**Figure 1\. Pedigree diagram for family G10197A\-F13\.**

![](/media/202606/20260629232455157484.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\-F13 | China | Leigh syndrome, dystonia | 0 | 1 | 2022 | [35907985](https://pubmed.ncbi.nlm.nih.gov/35907985/) |  |

The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F13 from China with leigh syndrome, dystonia. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset leigh syndrome, diplopia, slurred speech, gait disturbance, clumsiness, unable to live independently, vision, hearing loss.

# 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\-F13 | G10197A\-F13\-Ⅰ1 | Uninf | F | N | Y | A | 22 y | 18\.6% | / | 61% | / | Adult\-onset Leigh syndrome, diplopia/slurred speech, gait disturbance/clumsiness, unable to live independently |  |
| 2 | 10197 | m.10197G\>A | G10197A\-F13 | G10197A\-F13\-Ⅱ1 | Fam | M | Y | Y | A | 14 y | 68% | / | 93% | / | Adult\-onset Leigh syndrome, diplopia, vision/hearing loss, ataxia, dysarthria, dysphagia, limb weakness, dystonia, cognitive impairment |  |

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