A1555G-F222

**Figure 1\. Pedigree diagram for family A1555G\-F222\.**

![](/media/202607/A1555G-F222-pedigree_20260701021730656837.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 | 1555 | m.1555A\>G | A1555G\-F222 | Turkey | prelingual nonsyndromic profound deafness; first proband also had right parietal infarct | 4 | 0 | 2003 | [12655418](https://pubmed.ncbi.nlm.nih.gov/12655418/) | Family 1 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F222 from Turkey with prelingual nonsyndromic profound deafness; first proband also had right parietal infarct. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was profound prelingual 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 | 1555 | m.1555A\>G | A1555G\-F222 | A1555G\-F222\-II4 | Fam | M | Y | Y | A | 11 | Homo | / | / | / | Profound prelingual deafness | cerebral infarct; aminoglycoside exposure positive; Central Anatolia |
| 2 | 1555 | m.1555A\>G | A1555G\-F222 | A1555G\-F222\-I2 | Uninf | F | N | N | A | 48 | Homo | / | / | / | Healthy |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F222 | A1555G\-F222\-II2 | Fam | F | N | N | A | 22 | Homo | / | / | / | Healthy |  |
| 4 | 1555 | m.1555A\>G | A1555G\-F222 | A1555G\-F222\-II3 | Fam | M | N | N | A | 20 | Homo | / | / | / | Healthy |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F222 | A1555G\-F222\-III1 | Fam | F | N | N | A | 3 | Homo | / | / | / | Healthy |  |

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