A1555G-F28

**Figure 1\. Pedigree diagram for family A1555G\-F28\.**

![](/media/202607/A1555G-F28-pedigree_20260701021902323226.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\-F28 | China | Maternally inherited hearing loss | 3 | 6 | 2018 | [30272361](https://pubmed.ncbi.nlm.nih.gov/30272361/) | with A4317G |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F28 from China with maternally inherited hearing loss. The pedigree record reported 3 unaffected and 6 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was profound hearing loss, onset 50 years, pta left, right 90, 94, onset 53 years, right 96, 93\.

# 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\-F28 | A1555G\-F28\-II3 | Fam | M | N | Y | ND | 55 years | Positive | / | / | / | profound hearing loss; onset 50 years; PTA left/right 90/94 |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F28 | A1555G\-F28\-II8 | Fam | F | N | Y | ND | 63 years | Positive | / | / | / | profound hearing loss; onset 53 years; PTA left/right 96/93 |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F28 | A1555G\-F28\-II10 | Fam | F | N | Y | ND | 60 years | Positive | / | / | / | profound hearing loss; onset 58 years; PTA left/right 78/115 |  |
| 4 | 1555 | m.1555A\>G | A1555G\-F28 | A1555G\-F28\-III7 | Fam | M | N | Y | ND | 35 years | Positive | / | / | / | profound hearing loss; onset 30 years; PTA left/right 78/91 |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F28 | A1555G\-F28\-III10 | Fam | F | N | Y | ND | 30 years | Positive | / | / | / | profound hearing loss; onset 21 years; PTA left/right 99/100 | Carrying A4317G |
| 6 | 1555 | m.1555A\>G | A1555G\-F28 | A1555G\-F28\-III12 | Fam | F | Y | Y | ND | 28 years | Positive | / | / | / | Profound hearing loss; PTA left/right 108/108 | onset 1 year; gentamycin exposure reported at age 15 with irreversible impairment two weeks later |

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