T14484C-F55

**Figure 1\. Pedigree diagram for family T14484C\-F55\.**

![](/media/202606/20260630180251939735.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\-F55 | Australia | Leber hereditary optic neuropathy with HIV antiretroviral trigger | ND | ND | 2003 | [12724691](https://pubmed.ncbi.nlm.nih.gov/12724691/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F55 from Australia with leber hereditary optic neuropathy with hiv antiretroviral trigger. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was acute sequential central visual loss, central and centrocaecal scotomas, optic atrophy, hiv on nucleoside analogue therapy, painless sequential bilateral visual loss, no light perception, neurologic decline, elevated serum lactate.

# 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\-F55 | T14484C\-F55\-IX1 | Fam | M | Y | Y | A | 47y | / | / | / | / | Acute sequential central visual loss; central and centrocaecal scotomas; optic atrophy; HIV on nucleoside analogue therapy | Original label Case1 |
| 2 | 14484 | m.14484T\>C | T14484C\-F55 | T14484C\-F55\-IX7 | Fam | M | Y | Y | D | 57y | / | / | / | / | Painless sequential bilateral visual loss; no light perception; optic atrophy; neurologic decline; elevated serum lactate; HIV on nucleoside analogue therapy | Original label Case2 |

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