T11984C

# **General Information**

| **Position** | **11984** | **Variant** | **m.11984T\>C** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **Y409H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.11984T\>C** variant in MT\-ND4 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 1/2 carriers (50%) were affected. The main clinical manifestations among affected carriers included leigh syndrome, basal ganglionic lesions, multiple seizures, myopathic pattern, and respiratory failure.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11984 | m.11984T\>C | [T11984C\-F1](https://mitofam.com/doc/2109/) | India | Leigh syndrome | 1 | 1 | 2006 | [17022785](https://pubmed.ncbi.nlm.nih.gov/17022785/) |  |

# **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 | 11984 | m.11984T\>C | T11984C\-F1 | T11984C\-F1\-II1 | Fam | F | Y | Y | A | 3 months | Homo | / | / | / | Leigh syndrome; basal ganglionic lesions; respiratory failure; multiple seizures; myopathic pattern | Original carrier identifier: proband (female child) |
| 2 | 11984 | m.11984T\>C | T11984C\-F1 | T11984C\-F1\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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