T11042C-F1

**Figure 1\. Pedigree diagram for family T11042C\-F1\.**

![](/media/202606/20260630174241265625.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 | 11042 | m.11042T\>C | T11042C\-F1 | South Korea | Biliary atresia | ND | ND | 2018 | [29343773](https://pubmed.ncbi.nlm.nih.gov/29343773/) | Coexisting variant: T11048del/S97X |

The **m.11042T\>C** variant in MT\-ND4 was reported in family T11042C\-F1 from South Korea with biliary atresia. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was biliary atresia.

# 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 | 11042 | m.11042T\>C | T11042C\-F1 | T11042C\-F1\-II1 | Uninf | M | N | Y | ND | 15\.4 wk | / | / | / | Heteroplasmic (Liver) | Biliary atresia | Original carrier identifier: Patient 8; Coexisting variant: T11048del/S97X |
| 2 | 11042 | m.11042T\>C | T11042C\-F1 | T11042C\-F1\-II2 | Uninf | M | N | Y | ND | 61\.0 wk | / | / | / | Heteroplasmic (Liver) | Biliary atresia | Original carrier identifier: Patient 13; Coexisting variant: T11048del/S97X |
| 3 | 11042 | m.11042T\>C | T11042C\-F1 | T11042C\-F1\-II3 | Uninf | M | N | Y | ND | 11\.3 wk | / | / | / | Heteroplasmic (Liver) | Biliary atresia | Original carrier identifier: Patient 14; Coexisting variant: T11048del/S97X |
| 4 | 11042 | m.11042T\>C | T11042C\-F1 | T11042C\-F1\-II4 | Uninf | F | N | Y | ND | 8\.6 wk | / | / | / | Heteroplasmic (Liver) | Biliary atresia | Original carrier identifier: Patient 15; Coexisting variant: T11048del/S97X |
| 5 | 11042 | m.11042T\>C | T11042C\-F1 | T11042C\-F1\-II5 | Uninf | F | N | Y | ND | 17\.9 wk | / | / | / | Heteroplasmic (Liver) | Biliary atresia | Original carrier identifier: Patient 16; Coexisting variant: T11048del/S97X |
| 6 | 11042 | m.11042T\>C | T11042C\-F1 | T11042C\-F1\-II6 | Uninf | F | N | Y | ND | 19\.9 wk | / | / | / | Heteroplasmic (Liver) | Biliary atresia | Original carrier identifier: Patient 19; Coexisting variant: T11048del/S97X |

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