T11406A

# **General Information**

| **Position** | **11406** | **Variant** | **m.11406T\>A** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **L216H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **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.11406T\>A** variant in MT\-ND4 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 66\.1%, with a median of 31\.3% overall; affected carriers showed mutation loads from 0% to 66\.1%, with a median of 31\.3%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (66\.1%), urine (42\.3%), and bone marrow (20\.4%). The main clinical manifestations among affected carriers included mELAS syndrome, bilateral hearing loss, epileptic seizures, headache, proximal weakness and muscle atrophy, and recurrent stroke\-like episodes.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11406 | m.11406T\>A | T11406A\-F1 | China | MELAS syndrome | 0 | 0 | 2020 | [32659360](https://pubmed.ncbi.nlm.nih.gov/32659360/) |  |

# **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 | 11406 | m.11406T\>A | T11406A\-F1 | T11406A\-F1\-II2 | De novo | F | Y | Y | A | 32 | 0% | 66\.1% | 42\.3% | 20\.4%(BM) | MELAS syndrome; recurrent stroke\-like episodes, epileptic seizures, headache, bilateral hearing loss, proximal weakness and muscle atrophy | Original carrier identifier: second child |

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