T8357C-F1

**Figure 1\. Pedigree diagram for family T8357C\-F1\.**

![](/media/202607/T8357C-F1-pedigree_20260701024810500736.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8357 | m.8357T\>C | T8357C\-F1 | Venezuela | Multiple symmetric lipomatosis; dermatologic manifestations | 1 | 2 | 2020 | [31912494](https://pubmed.ncbi.nlm.nih.gov/31912494/) | / |

The **m.8357T\>C** variant in MT\-TK was reported in family T8357C\-F1 from Venezuela with multiple symmetric lipomatosis; dermatologic manifestations. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was abdominal and shoulder lipomas, osteoarthritis, herniated disc, controlled arterial hypertension, multiple symmetric lipomatosis, erythematous\-scaly pruritic plaques, hand hyperkeratosis, desquamative lesions on right thumb and index.

# 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 | 8357 | m.8357T\>C | T8357C\-F1 | T8357C\-F1\-II1 | Fam | F | N | Y | A | ND | 43% | / | / | / | Abdominal and shoulder lipomas; osteoarthritis; herniated disc; controlled arterial hypertension | Mother of proband. |
| 2 | 8357 | m.8357T\>C | T8357C\-F1 | T8357C\-F1\-III1 | Fam | M | Y | Y | A | 47 | 53%; 65% | / | / | / | Multiple symmetric lipomatosis; erythematous\-scaly pruritic plaques; hand hyperkeratosis; desquamative lesions on right thumb and index; brachycephaly; facial asymmetry; degenerative discopathy; bilateral microlithiasis; sporadic elevation of blood pressure; hyperuricemia; mixed dyslipidemia | Two blood samples from proband. |
| 3 | 8357 | m.8357T\>C | T8357C\-F1 | T8357C\-F1\-III2 | Fam | F | N | Y | A | ND | 38% | / | / | / | Abdominal lipoma\-type lesions | Maternal half sister. |
| 4 | 8357 | m.8357T\>C | T8357C\-F1 | T8357C\-F1\-III3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Maternal half brother III\-3; no molecular testing; clinically healthy. |

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