A15992T-F5

**Figure 1\. Pedigree diagram for family A15992T\-F5\.**

![](/media/202606/20260629234149352008.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15992 | m.15992A\>T | A15992T\-F5 | France | Severe exercise intolerance, masseter swelling, congenital cataract | 2 | 10 | 2020 | [32802947](https://pubmed.ncbi.nlm.nih.gov/32802947/) |  |

The **m.15992A\>T** variant in MT\-TP was reported in family A15992T\-F5 from France with severe exercise intolerance, masseter swelling, congenital cataract. The pedigree record reported 2 unaffected and 10 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was isolated chewing\-induced masseter swelling, congenital cataract, severe exercise intolerance, masseter swelling.

# 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\-F5 | A15992T\-F5\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated chewing\-induced masseter swelling |  |
| 2 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-II5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated chewing\-induced masseter swelling |  |
| 3 | 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 |  |
| 4 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-III6 | Fam | F | N | Y | A | ND | Homo | / | / | / | Severe exercise intolerance |  |
| 5 | 15992 | m.15992A\>T | A15992T\-F5 | A15992T\-F5\-III10 | Fam | F | N | Y | A | ND | Homo | / | / | / | Severe exercise intolerance, masseter swelling |  |

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