T10158C-F5

**Figure 1\. Pedigree diagram for family T10158C\-F5\.**

![](/media/202606/20260629232624328993.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 | 10158 | m.10158T\>C | T10158C\-F5 | Australia | Lethal infantile mitochondrial disease, neonatal coma, hypothermia, metabolic acidosis, elevated blood/CSF lactate Unaffected mother | 1 | 0 | 2004 | [14705112](https://pubmed.ncbi.nlm.nih.gov/14705112/) | Carring T10191C |

The **m.10158T\>C** variant in MT\-ND3 was reported in family T10158C\-F5 from Australia with lethal infantile mitochondrial disease, neonatal coma, hypothermia, metabolic acidosis, elevated blood/csf lactate unaffected mother. 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 lethal infantile mitochondrial disease, neonatal coma, hypothermia.

# 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 | 10158 | m.10158T\>C | T10158C\-F5 | T10158C\-F5\-Ⅰ1 | Uninf | F | N | N | A | ND | / | / | / | 7%(F) | Healthy | Carring T10191C |
| 2 | 10158 | m.10158T\>C | T10158C\-F5 | T10158C\-F5\-Ⅱ1 | Fam | M | Y | Y | D | 22 d | / | / | / | \>98%(Other tissue) | Lethal infantile mitochondrial disease, neonatal coma, hypothermia | Carring T10191C |

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