T16093C

# **General Information**

| **Position** | **16093** | **Variant** | **m.16093T\>C** | **Locus** | **MT\-CR** | **Amino\-AcidChange** | **noncoding** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.16093T\>C** variant in MT\-CR has been reported in 2 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 1\.6% to 8\.5%, with a median of 5% overall; affected carriers showed mutation loads from 1\.6% to 8\.5%, with a median of 5%. The main clinical manifestations among affected carriers included diabetes, abnormal brain MRI, mild bilateral SNHL, CVS, SIADH, agenesis of corpus callosum, brain atrophy, growth failure in infancy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 16093 | m.16093T\>C | T16093C\-F1 | USA | CVS, mental retardation, hypotonia, muscle weakness, growth failure, gut dysmotility, SIADH, obsessive\-compulsive disorder, agenesis of corpus callosum | 0 | 0 | 2004 | [15368478](https://pubmed.ncbi.nlm.nih.gov/15368478/) | Table II subject 6 only; no pedigree; age is CVS onset age. |
| 2 | 16093 | m.16093T\>C | [T16093C\-F2](https://mitofam.com/doc/1911/) | China(Shanghai) | Diabetes, hearing loss, nausea/vomiting | 0 | 1 | 2019 | [31143779](https://pubmed.ncbi.nlm.nih.gov/31143779/) | Carrying A3243G; T16093C de novo in II1 with transmission to III1\. |

# **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 | 16093 | m.16093T\>C | T16093C\-F1 | T16093C\-F1\-P1 | Uninf | ND | Y | Y | ND | 3 | 5% | / | / | / | CVS, mental retardation, hypotonia, weakness, growth failure in infancy, gut dysmotility, SIADH, obsessive\-compulsive disorder, agenesis of corpus callosum | Age is onset age; evaluation age not reported. |
| 2 | 16093 | m.16093T\>C | T16093C\-F2 | T16093C\-F2\-II1 | De novo | F | Y | Y | A | 60 | 1\.57% | / | / | / | Diabetes, mild bilateral SNHL, abnormal brain MRI, brain atrophy | Co\-occurring A3243G reported in blood/saliva/urine. |
| 3 | 16093 | m.16093T\>C | T16093C\-F2 | T16093C\-F2\-III1 | Fam | M | N | Y | A | 31 | 8\.54% | / | / | / | Diabetes, mild bilateral SNHL, abnormal brain MRI, nausea and vomiting | Co\-occurring A3243G reported in blood/saliva/urine. |

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