T14484C-F53

**Figure 1\. Pedigree diagram for family T14484C\-F53\.**

![](/media/202606/20260630180246151806.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14484 | m.14484T\>C | T14484C\-F53 | USA | LHON plus fatal infantile encephalopathy | 2 | 8 | 2003 | [12464729](https://pubmed.ncbi.nlm.nih.gov/12464729/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F53 from USA with lhon plus fatal infantile encephalopathy. The pedigree record reported 2 unaffected and 8 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 6/12 listed carriers; 9/12 carriers were affected, and the main clinical manifestation among affected carriers was lhon, affected male with lhon, fatal infantile encephalopathy, death at 19 mo.

# 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 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-II4 | Fam | F | N | N | A | ND | Homo | / | / | G11778A 23% (ND) | Healthy | Original label II\-4; carrying m.11778G\>A |
| 2 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III2 | Fam | ND | N | N | A | ND | Homo | / | / | G11778A 35% (ND) | Healthy | Original label III\-2 |
| 3 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III4 | Fam | F | N | Y | A | 21 | Present; load NR | / | / | G11778A load NR | LHON | Original label III\-4 |
| 4 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III5 | Fam | F | N | Y | A | 29 | Homo | / | / | G11778A 77% (ND) | LHON | Original label III\-5 |
| 5 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III7 | Fam | ND | N | ND | ND | ND | Homo | / | / | G11778A ND; poor DNA | Clinical status not recoverable | Original label III\-7 |
| 6 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III8 | Fam | M | N | Y | A | 24 | Homo | / | / | G11778A 42% (ND) | Affected male with LHON | Original label III\-8 |
| 7 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV2 | Fam | F | Y | Y | A | 23 | Homo | / | / | G11778A 71% (ND) | LHON | Original label IV\-2 |
| 8 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV6 | Fam | F | N | Y | D | 30 mo | / | / | / | T14484C Homo (paraffin brain); G11778A unresolved | Fatal infantile encephalopathy | Original label IV\-6 |
| 9 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV4 | Fam | M | N | Y | D | 16 mo | / | / | / | / | Fatal infantile encephalopathy | Original label IV\-4 |
| 10 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV5 | Fam | F | N | Y | D | 25 mo | / | / | / | / | Fatal infantile encephalopathy | Original label IV\-5 |
| 11 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV7 | Fam | F | N | Y | D | 9 mo | / | / | / | / | Fatal infantile encephalopathy | Original label IV\-7 |
| 12 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV8 | Fam | M | N | Y | D | 12 mo | / | / | / | / | Fatal infantile encephalopathy; death at 19 mo | Original label IV\-8 |

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