C1624T-F2

**Figure 1\. Pedigree diagram for family C1624T\-F2\.**

![](/media/202606/20260625174240247156.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1624 | m.1624C\>T | C1624T\-F2 | Japan | Recurrent consciousness disturbance, cognitive decline, personality change, psychomotor agitation, disinhibition | 3 | 1 | 2012 | [23063709](https://pubmed.ncbi.nlm.nih.gov/23063709/) |  |

The **m.1624C\>T** variant in MT\-TV was reported in family C1624T\-F2 from Japan with recurrent consciousness disturbance, cognitive decline, personality change, psychomotor agitation, disinhibition. The pedigree record reported 3 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 recurrent consciousness disturbance, cognitive decline, personality change, psychomotor agitation, disinhibition, stroke\-like episodes, seizures, psychosis (hallucinations.

# 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 | 1624 | m.1624C\>T | C1624T\-F2 | C1624T\-F2\-II1 | Fam | M | Y | Y | A | 29 | 34% | 59\.7% | / | / | Recurrent consciousness disturbance, cognitive decline, personality change, psychomotor agitation, disinhibition |  |
| 2 | 1624 | m.1624C\>T | C1624T\-F2 | C1624T\-F2\-I2 | Uninf | F | N | Y | A | 37 | 17% | / | / | / | Stroke\-like episodes, seizures, psychosis (hallucinations, delusions), alexia, left hemiparesis |  |

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