A10450G-F1

**Figure 1\. Pedigree diagram for family A10450G\-F1\.**

![](/media/202606/20260622171706478230.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10450 | m.10450A\>G | A10450G\-F1 | Netherlands | Combined OXPHOS defects \& severe multisystem disorder | 1 | 0 | 2010 | [19809478](https://pubmed.ncbi.nlm.nih.gov/19809478/) |  |

The **m.10450A\>G** variant in MT\-TR was reported in family A10450G\-F1 from Netherlands with combined oxphos defects \& severe multisystem disorder. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was premature birth, low birth weight, short stature, microcephaly, severe generalized hypotonia, respiratory insufficiency, feeding difficulty, anemia.

# 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 | 10450 | m.10450A\>G | A10450G\-F1 | A10450G\-F1\-II1 | Fam | M | Y | Y | A | 0\.67 | / | 93% | / | 92%(F) | Premature birth, low birth weight, short stature, microcephaly, severe generalized hypotonia, respiratory insufficiency, feeding difficulty, anemia, severe psychomotor retardation, growth retardation, visual dysfunction, epilepsy, West syndrome, intractable BNS\-type seizures, central visual perception loss, hyporeflexia, severe intellectual disability, no visual or auditory contact, dependence on tube feeding |  |
| 2 | 10450 | m.10450A\>G | A10450G\-F1 | A10450G\-F1\-I2 | Uninf | F | N | N | A | ND | 0% | / | / | 18%(F) | Healthy |  |

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