A1555G-F93

**Figure 1\. Pedigree diagram for family A1555G\-F93\.**

![](/media/202607/A1555G-F93-pedigree_20260701022534211150.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\-F93 | China | Nonsyndromic hearing impairment in a maternal pedigree; m.4394C\>T modifier also present | 4 | 5 | 2022 | [36292680](https://pubmed.ncbi.nlm.nih.gov/36292680/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F93 from China with nonsyndromic hearing impairment in a maternal pedigree; m.4394c\>t modifier also present. The pedigree record reported 4 unaffected and 5 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was pta right 85 db, left 71 db, severe sloping hearing impairment, pta right 30 db, left 30 db, mild flat hearing impairment, pta right 54 db, left 57 db.

# 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\-F93 | A1555G\-F93\-III7 | Fam | F | Y | Y | ND | 25 | Homo | / | / | / | PTA right 85 dB / left 71 dB; severe sloping hearing impairment | Female proband; onset age 24; no aminoglycoside exposure reported; also carries m.4394C\>T |
| 2 | 1555 | m.1555A\>G | A1555G\-F93 | A1555G\-F93\-II6 | Fam | F | N | Y | ND | 50 | Homo | / | / | / | PTA right 30 dB / left 30 dB; mild flat hearing impairment | Affected female; onset age 45; no aminoglycoside exposure reported; also carries m.4394C\>T |
| 3 | 1555 | m.1555A\>G | A1555G\-F93 | A1555G\-F93\-II8 | Fam | F | N | Y | ND | 49 | Homo | / | / | / | PTA right 54 dB / left 57 dB; moderate sloping hearing impairment | Affected female; onset age 22; gentamycin exposure; also carries m.4394C\>T |

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