G10197A-F1

**Figure 1\. Pedigree diagram for family G10197A\-F1\.**

![](/media/202606/20260629232308641025.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\-F1 | France | Leigh syndrome | 0 | 3 | 2007 | [17152068](https://pubmed.ncbi.nlm.nih.gov/17152068/) |  |

The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F1 from France with leigh syndrome. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was hypotonia and mild mental retardation, leigh syndrome, growth retardation, hypotonia, psychomotor regression, seizures, anorexia, nystagmus.

# 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\-F1 | G10197A\-F1\-Ⅰ1 | Uninf | F | N | Y | A | 41 y | 67% | / | / | / | Hypotonia and mild mental retardation |  |
| 2 | 10197 | m.10197G\>A | G10197A\-F1 | G10197A\-F1\-Ⅱ1 | Fam | M | Y | Y | D | 5 mo | / | 100% | / | / | Leigh syndrome, growth retardation, hypotonia, psychomotor regression, seizures |  |
| 3 | 10197 | m.10197G\>A | G10197A\-F1 | G10197A\-F1\-Ⅱ2 | Fam | M | N | Y | D | 2 mo | 100% | / | / | 100%(Liver) | Anorexia, nystagmus, hypotonia |  |
| 4 | 10197 | m.10197G\>A | G10197A\-F1 | G10197A\-F1\-Ⅱ3 | Fam | F | N | Y | D | 8 mo | / | 100% | / | / | Hypotonia, growth retardation, liver enlargement, slight muscle atrophy, respiratory distress |  |

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