G15927A

# General Information

| **Position** | **15927** | **Variant** | **m.15927G\>A** | **Locus** | **MT\-TT** | **RNA** | **tRNA Thr** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 16\.20% | **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.15927G\>A** variant in MT\-TT has been reported in 7 pedigrees. To date, 16 carriers have been reported. Homoplasmy was reported in 16/16 carriers (100%), and 14/16 carriers (87\.5%) were affected. The main clinical manifestations among affected carriers included CHD, gentamycin ototoxicity, bilateral profound hearing loss, hypertension, bilateral severe hearing loss, coronary heart disease (CHD), LHON, moderate hearing loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15927 | m.15927G\>A |[ G15927A\-F1](https://mitofam.com/doc/832/) | China | Bilateral profound hearing loss, gentamycin ototoxicity | 4 | 7 | 2008 | [18820594](https://pubmed.ncbi.nlm.nih.gov/18820594/) | Carrying A1555G |
| 2 | 15927 | m.15927G\>A | [G15927A\-F2](https://mitofam.com/doc/833/) | China | Bilateral profound hearing loss, gentamycin ototoxicity | 4 | 7 | 2008 | [18820594](https://pubmed.ncbi.nlm.nih.gov/18820594/) | Carrying A1555G |
| 3 | 15927 | m.15927G\>A | [G15927A\-F3](https://mitofam.com/doc/834/) | China | Bilateral profound hearing loss, gentamycin ototoxicity | 13 | 13 | 2008 | [18820594](https://pubmed.ncbi.nlm.nih.gov/18820594/) | Carrying A1555G |
| 4 | 15927 | m.15927G\>A | [G15927A\-F4 ](https://mitofam.com/doc/835/)| China | Bilateral profound hearing loss, gentamycin ototoxicity | 9 | 8 | 2008 | [18820594](https://pubmed.ncbi.nlm.nih.gov/18820594/) | Carrying A1555G |
| 5 | 15927 | m.15927G\>A | [G15927A\-F5 ](https://mitofam.com/doc/836/)| China | CHD | 3 | 9 | 2013 | [23736300](https://pubmed.ncbi.nlm.nih.gov/23736300/) |  |
| 6 | 15927 | m.15927G\>A | [G15927A\-F6](https://mitofam.com/doc/837/) | China | Coronary heart disease (CHD), hypertension, diabetes mellitus, cerebrovascular disease, left ventricular hypertrophy (LVH) | 6 | 5 | 2014 | [24470521](https://pubmed.ncbi.nlm.nih.gov/24470521/) | Carrying A5592G |
| 7 | 15927 | m.15927G\>A | [G15927A\-F7](https://mitofam.com/doc/838/) | China | LHON | 5 | 0 | 2018 | [29225014](https://pubmed.ncbi.nlm.nih.gov/29225014/) |  |

# 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 | 15927 | m.15927G\>A | G15927A\-F1 | G15927A\-F1\-III1 | Fam | F | Y | Y | A | 3 | Homo | / | / | / | Bilateral profound hearing loss, gentamycin ototoxicity | Carrying A1555G |
| 2 | 15927 | m.15927G\>A | G15927A\-F1 | G15927A\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Moderate hearing loss | Carrying A1555G |
| 3 | 15927 | m.15927G\>A | G15927A\-F2 | G15927A\-F2\-IV2 | Fam | F | Y | Y | A | 17 | Homo | / | / | / | Bilateral severe hearing loss, gentamycin ototoxicity | Carrying A1555G |
| 4 | 15927 | m.15927G\>A | G15927A\-F2 | G15927A\-F2\-III7 | Fam | M | N | Y | A | ND | Homo | / | / | / | Profound deafness | Carrying A1555G |
| 5 | 15927 | m.15927G\>A | G15927A\-F3 | G15927A\-F3\-V1 | Fam | M | Y | Y | A | 12 | Homo | / | / | / | Bilateral profound hearing loss, gentamycin ototoxicity | Carrying A1555G |
| 6 | 15927 | m.15927G\>A | G15927A\-F3 | G15927A\-F3\-IV2 | Fam | F | N | Y | A | ND | Homo | / | / | / | moderate deafness | Carrying A1555G |
| 7 | 15927 | m.15927G\>A | G15927A\-F4 | G15927A\-F4\-III2 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | Bilateral profound hearing loss, gentamycin ototoxicity | Carrying A1555G |
| 8 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III7 | Fam | M | Y | Y | A | 55 | Homo | / | / | / | CHD, ischemia, hypertension, hypercholesterolemia |  |
| 9 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-II2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 10 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III2 | Fam | F | N | Y | A | 53 | Homo | / | / | / | CHD |  |
| 11 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III6 | Fam | F | N | Y | A | 45 | Homo | / | / | / | CHD |  |
| 12 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-III9 | Fam | M | N | Y | A | 49 | Homo | / | / | / | CHD |  |
| 13 | 15927 | m.15927G\>A | G15927A\-F5 | G15927A\-F5\-IV3 | Fam | M | N | Y | A | 30 | Homo | / | / | / | CHD |  |
| 14 | 15927 | m.15927G\>A | G15927A\-F6 | G15927A\-F6\-III2 | Fam | F | Y | Y | A | 50 | Homo | / | / | / | Coronary heart disease (CHD), hypertension, diabetes mellitus, cerebrovascular disease, left ventricular hypertrophy (LVH) | Carrying A5592G |
| 15 | 15927 | m.15927G\>A | G15927A\-F7 | G15927A\-F7\-III1 | Uninf | F | Y | Y | A | 10 | Homo | / | / | / | LHON |  |
| 16 | 15927 | m.15927G\>A | G15927A\-F7 | G15927A\-F7\-III3 | Uninf | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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