G16023A-F1

**Figure 1\. Pedigree diagram for family G16023A\-F1\.**

![](/media/202606/20260629234437991441.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 16023 | m.16023G\>A | G16023A\-F1 | UK | Migraine, pigmentary retinopathy, deafness | 1 | 0 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) |  |

The **m.16023G\>A** variant in MT\-TP was reported in family G16023A\-F1 from UK with migraine, pigmentary retinopathy, deafness. 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 migraine, pigmentary retinopathy, deafness.

# 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 | 16023 | m.16023G\>A | G16023A\-F1 | G16023A\-F1\-II1 | Fam | F | Y | Y | A | 35 | 9% | 86% | 36% | / | Migraine, pigmentary retinopathy, deafness |  |
| 2 | 16023 | m.16023G\>A | G16023A\-F1 | G16023A\-F1\-I2 | Uninf | F | N | N | A | ND | 1% | / | 7% | / | Healthy |  |

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