G4332A

# **General Information**

| **Position** | **4332** | **Variant** | **m.4332G\>A** | **Locus** | **MT\-TQ** | **RNA** | **tRNA Gln** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"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.4332G\>A** variant in MT\-TQ has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 81%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 81%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and fibroblasts (0%) but exceeded 20% in muscle (81%). In one affected carrier, the mutation was undetectable in blood (0%) and fibroblasts (0%) but exceeded 20% in muscle (81%). The main clinical manifestations among affected carriers included encephalopathy, MELAS, deafness, and stroke\-like episodes.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4332 | m.4332G\>A | G4332A\-F1 | France | MELAS | 0 | 0 | 2001 | [11171912](https://pubmed.ncbi.nlm.nih.gov/11171912/) |  |
| 2 | 4332 | m.4332G\>A | G4332A\-F2 | France | Encephalopathy;stroke\-like episodes;deafness | 0 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) |  |

# **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 | 4332 | m.4332G\>A | G4332A\-F1 | G4332A\-F1\-P1 | De novo | M | Y | Y | A | 47 | 0 | 81% | / | 0%(F) | MELAS |  |
| 2 | 4332 | m.4332G\>A | G4332A\-F2 | G4332A\-F2\-P1 | De novo | M | Y | Y | A | 52 | 0 | 81% | / | 0%(F) | Encephalopathy;stroke\-like episodes;deafness |  |

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