A15992T

# General Information

| **Position** | **15992** | **Variant** | **m.15992A\>T** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 17\.60% | **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.15992A\>T** variant in MT\-TP has been reported in 6 pedigrees. To date, 19 carriers have been reported. Homoplasmy was reported in 19/19 carriers (100%), and 19/19 carriers (100%) were affected. The main clinical manifestations among affected carriers included masseter swelling, moderate exercise intolerance, myalgia, severe exercise intolerance, fatigability, isolated chewing\-induced masseter swelling, short stature, congenital cataract, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15992 | m.15992A\>T | [A15992T\-F1](https://mitofam.com/doc/1225/) | France | Severe exercise intolerance, masseter swelling | 3 | 25 | 2020 | [32802947](https://pubmed.ncbi.nlm.nih.gov/32802947/) |  |
| 2 | 15992 | m.15992A\>T | A15992T\-F2 | France | Fatigability, muscle pain, bilateral cataract | 2 | 1 | 2020 | [32802947](https://pubmed.ncbi.nlm.nih.gov/32802947/) |  |
| 3 | 15992 | m.15992A\>T | A15992T\-F3 | France | Myalgia, fatigability, vomiting, short stature | 5 | 3 | 2020 | [32802947](https://pubmed.ncbi.nlm.nih.gov/32802947/) |  |
| 4 | 15992 | m.15992A\>T | A15992T\-F4 | France | Myalgia, muscle fatigue, vomiting/malaise | 3 | 4 | 2020 | [32802947](https://pubmed.ncbi.nlm.nih.gov/32802947/) |  |
| 5 | 15992 | m.15992A\>T | [A15992T\-F5](https://mitofam.com/doc/1226/) | France | Severe exercise intolerance, masseter swelling, congenital cataract | 2 | 10 | 2020 | [32802947](https://pubmed.ncbi.nlm.nih.gov/32802947/) |  |
| 6 | 15992 | m.15992A\>T | [A15992T\-F6](https://mitofam.com/doc/1227/) | Italy | Severe early\-onset muscle fatigue, masseter swelling | 1 | 5 | 2023 | [38030461](https://pubmed.ncbi.nlm.nih.gov/38030461/) |  |

# 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 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-I1 | Uninf | F | N | Y | A | ND | Homo | / | Homo | Homo (F,BM) | Moderate exercise intolerance,masseter swelling |  |
| 2 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-II5 | Fam | F | N | Y | A | ND | Homo | / | Homo | Homo (F,BM) | Moderate exercise intolerance,masseter swelling |  |
| 3 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-III10 | Fam | F | N | Y | A | 22 | Homo | Homo | Homo | Homo (F,BM) | Masseter swelling, exercise intolerance, myalgia/exhaustion |  |
| 4 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-III11 | Fam | F | N | Y | A | ND | Homo | / | / | / | Moderate exercise intolerance,masseter swelling |  |
| 5 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-III12 | Fam | M | N | Y | A | ND | Homo | / | / | / | Moderate exercise intolerance,masseter swelling |  |
| 6 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-III13 | Fam | M | Y | Y | A | 14 | Homo | Homo | Homo | Homo (F) | Moderate exercise intolerance,masseter swelling |  |
| 7 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-IV3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Moderate exercise intolerance,masseter swelling |  |
| 8 | 15992 | m.15992A\>T | A15992T\-F1 | A15992T\-F1\-IV4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Moderate exercise intolerance,masseter swelling |  |
| 9 | 15992 | m.15992A\>T | A15992T\-F2 | A15992T\-F2\-II2 | Uninf | M | Y | Y | A | 14 | Homo | Homo | / | Homo (F) | Fatigability, muscle pain after moderate exercise, bilateral cataract, short stature |  |
| 10 | 15992 | m.15992A\>T | A15992T\-F3 | A15992T\-F3\-III6 | Fam | F | Y | Y | A | ND | Homo | Homo | / | Homo (F) | Myalgia, fatigability, vomiting with continued effort, short stature |  |
| 11 | 15992 | m.15992A\>T | A15992T\-F4 | A15992T\-F4\-III5 | Fam | F | Y | Y | A | 13 | Homo | Homo | / | Homo (F) | Myalgia, muscle fatigue, vomiting/malaise after prolonged effort |  |
| 12 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated chewing\-induced masseter swelling |  |
| 13 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-II5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated chewing\-induced masseter swelling |  |
| 14 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-III5 | Fam | F | Y | Y | A | 38 | Homo | Homo | / | Homo (F) | Congenital cataract, severe exercise intolerance, masseter swelling |  |
| 15 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-III6 | Fam | F | N | Y | A | ND | Homo | / | / | / | Severe exercise intolerance |  |
| 16 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-III10 | Fam | F | N | Y | A | ND | Homo | / | / | / | Severe exercise intolerance, masseter swelling |  |
| 17 | 15992 | m.15992A\>T | A15992T\-F6 | A15992T\-F6\-III2 | Uninf | F | N | Y | A | ND | Homo | / | Homo | / | Masseter swelling |  |
| 18 | 15992 | m.15992A\>T | A15992T\-F6 | A15992T\-F6\-IV1 | Fam | M | Y | Y | A | 16 | Homo | Homo | Homo | Homo (F) | Exercise\-induced fatigability, lower limb muscle hypotrophy, masseter swelling |  |
| 19 | 15992 | m.15992A\>T | A15992T\-F6 | A15992T\-F6\-IV2 | Fam | M | N | Y | A | 10 | Homo | / | Homo | / | Muscular fatigue, masseter swelling |  |

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