T9957C-F3

**Figure 1\. Pedigree diagram for family T9957C\-F3\.**

![](/media/202606/2b81749528ec451f9473bc926b630c2f7211.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9957 | m.9957T\>C | T9957C\-F3 | Korea | MELAS; cataract | 0 | 1 | 2008 | [18587274](https://pubmed.ncbi.nlm.nih.gov/18587274/) |  |

The **m.9957T\>C** variant in MT\-CO3 was reported in family T9957C\-F3 from Korea with melas; cataract. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, seizure, diabetes, hypothyroidism, short stature, migraine, bilateral cataracts, ragged\-red fibers.

# 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 | 9957 | m.9957T\>C | T9957C\-F3 | T9957C\-F3\-II1 | Fam | M | Y | Y | ND | 25 | Homo | Homo | / | / | MELAS; seizure; diabetes; hypothyroidism; short stature; migraine; bilateral cataracts; ragged\-red fibers |  |
| 2 | 9957 | m.9957T\>C | T9957C\-F3 | T9957C\-F3\-I1 | Uninf | F | N | Y | ND | 54 | Homo | / | / | / | MELAS/cataract spectrum; short stature; recurrent migraine; bilateral cataracts; elevated lactate; MRI abnormalities |  |

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