T10191C-F14

**Figure 1\. Pedigree diagram for family T10191C\-F14\.**

![](/media/202606/20260629232825289116.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 | 10191 | m.10191T\>C | T10191C\-F14 | Israel | Leigh syndrome | 1 | 0 | 2005 | [16023078](https://pubmed.ncbi.nlm.nih.gov/16023078/) |  |

The **m.10191T\>C** variant in MT\-ND3 was reported in family T10191C\-F14 from Israel with leigh syndrome. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was infantile leigh syndrome, decreased feeding, alertness, bradypnea, apnea, 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 | 10191 | m.10191T\>C | T10191C\-F14 | T10191C\-F14\-Ⅰ1 | Uninf | F | N | ND | A | ND | 5% | / | / | / | Healthy |  |
| 2 | 10191 | m.10191T\>C | T10191C\-F14 | T10191C\-F14\-Ⅱ1 | Fam | M | Y | Y | A | 5 wk | 100% | 100% | / | 50%(H) | Infantile Leigh syndrome, decreased feeding/alertness, bradypnea/apnea, seizures |  |

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