A8344G-F90

**Figure 1\. Pedigree diagram for family A8344G\-F90\.**

![](/media/202607/A8344G-F90-pedigree_20260701024449011638.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 | 8344 | m.8344A\>G | A8344G\-F90 | USA | Leigh disease in proband; migraine/partial epilepsy/ADHD/learning disability in maternal relatives | 6 | 0 | 2003 | [12661941](https://pubmed.ncbi.nlm.nih.gov/12661941/) | Seven target\-positive maternal\-line members are reported; no pedigree figure is provided. Relatives with minor features are recorded as Affected\=N for G/H and described in Clinical Features. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F90 from USA with leigh disease in proband; migraine/partial epilepsy/adhd/learning disability in maternal relatives. The pedigree record reported 6 unaffected and 0 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 1/7 carriers were affected, and the main clinical manifestation among affected carriers was leigh disease, developmental delay, hypotonia, regression, weakness, sensorineural deafness, cardiomyopathy, wpw.

# 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 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-I1 | Uninf | F | N | N | A | 65 | 10% | / | / | / | Migraine only | Maternal great\-grandmother; target\-positive in blood. |
| 2 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-II1 | Fam | F | N | N | A | 39 | 20% | / | / | / | Migraine | Maternal grandmother; target\-positive in blood. Emphysema and bronchial asthma also reported. |
| 3 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-III1 | Fam | F | N | N | A | 22 | 40% | / | / | / | Migraine | Mother; target\-positive in blood. Abstract reports migraine headaches; mutation\-testing sentence calls her a healthy 22\-year\-old mother. |
| 4 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-III2 | Fam | M | N | N | A | 15 | 30% | / | / | / | ADHD; learning disability; occasional headache | Maternal uncle; target\-positive in blood. |
| 5 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-III3 | Fam | F | N | N | A | 17 | 40% | / | / | / | Partial epilepsy; migraine | Maternal aunt; target\-positive in blood. |
| 6 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-IV1 | Fam | M | Y | Y | D | 22 mo | 100% | 100% | / | 100%(Liver) | Leigh disease; developmental delay; hypotonia; regression; weakness; sensorineural deafness; cardiomyopathy/WPW; respiratory failure | Died after respiratory arrest; A3243G and T8993G were negative. |
| 7 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-IV2 | Fam | F | N | N | A | 4 | 30% | / | / | / | Migraine only | Sister; target\-positive in blood. |

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