T16093C-F2

**Figure 1\. Pedigree diagram for family T16093C\-F2\.**

![](/media/202606/c8728009f9c74bc4970ac000a07344984657.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 16093 | m.16093T\>C | T16093C\-F2 | 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\. |

The **m.16093T\>C** variant in MT\-CR was reported in family T16093C\-F2 from China(Shanghai) with diabetes, hearing loss, nausea/vomiting. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was diabetes, mild bilateral snhl, abnormal brain mri, brain atrophy, nausea and vomiting.

# 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\-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. |
| 2 | 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. |

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