A1555G-F136

**Figure 1\. Pedigree diagram for family A1555G\-F136\.**

![](/media/202607/A1555G-F136-pedigree_20260701021119674567.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\-F136 | China | Maternally inherited sensorineural hearing loss with A1555G | ND | ND | 2008 | [18282333](https://pubmed.ncbi.nlm.nih.gov/18282333/) | Family 18282333 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F136 from China with maternally inherited sensorineural hearing loss with a1555g. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 19 listed carriers. Homoplasmy was reported in all listed carriers; 15/19 carriers were affected, and the main clinical manifestation among affected carriers was hearing status: severe, hearing status: profound, hearing status: mild, onset: congenital, hearing status: moderate.

# 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\-F136 | A1555G\-F136\-II2 | Fam | F | N | Y | ND | 77 | Homo | / | / | / | Hearing status: severe | onset: 30; aminoglycoside exposure: Yes |
| 2 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-II6 | Fam | F | N | Y | ND | 67 | Homo | / | / | / | Hearing status: profound | onset: 40; aminoglycoside exposure: Yes |
| 3 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-II8 | Fam | F | Y | Y | ND | 61 | Homo | / | / | / | Hearing status: mild | onset: 58; aminoglycoside exposure: No |
| 4 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III1 | Fam | M | N | Y | ND | 38 | Homo | / | / | / | Hearing status: severe; onset: congenital | aminoglycoside exposure: No |
| 5 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III3 | Fam | F | N | Y | ND | 40 | Homo | / | / | / | Hearing status: severe; onset: congenital | aminoglycoside exposure: No |
| 6 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III5 | Fam | M | N | Y | ND | 48 | Homo | / | / | / | Hearing status: moderate | onset: 10; aminoglycoside exposure: Yes |
| 7 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III7 | Fam | M | N | Y | ND | 51 | Homo | / | / | / | Hearing status: mild | onset: 4; aminoglycoside exposure: No |
| 8 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III9 | Fam | M | N | Y | ND | 54 | Homo | / | / | / | Hearing status: mild | onset: 7; aminoglycoside exposure: Yes |
| 9 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III11 | Fam | M | N | Y | ND | 56 | Homo | / | / | / | Hearing status: mild | onset: 1; aminoglycoside exposure: Yes |
| 10 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III13 | Fam | F | N | Y | ND | 49 | Homo | / | / | / | Hearing status: severe | onset: 18; aminoglycoside exposure: Yes |
| 11 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III17 | Fam | M | N | Y | ND | 51 | Homo | / | / | / | Hearing status: mild | onset: 15; aminoglycoside exposure: No |
| 12 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III21 | Fam | F | N | Y | ND | 45 | Homo | / | / | / | Hearing status: severe | onset: 3; aminoglycoside exposure: Yes |
| 13 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III23 | Fam | M | N | Y | ND | 46 | Homo | / | / | / | Hearing status: mild | onset: 38; aminoglycoside exposure: No |
| 14 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III25 | Fam | F | N | Y | ND | 42 | Homo | / | / | / | Hearing status: profound | onset: 16; aminoglycoside exposure: Yes |
| 15 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-III27 | Fam | F | N | Y | ND | 36 | Homo | / | / | / | Hearing status: profound | onset: 8 months; aminoglycoside exposure: Yes |
| 16 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-IV2 | Fam | F | N | N | ND | 17 | Homo | / | / | / | Healthy | onset: NA; aminoglycoside exposure: No |
| 17 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-IV7 | Fam | M | N | N | ND | 25 | Homo | / | / | / | Healthy | onset: NA; aminoglycoside exposure: No |
| 18 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-IV13 | Fam | M | N | N | ND | 17 | Homo | / | / | / | Healthy | onset: NA; aminoglycoside exposure: No |
| 19 | 1555 | m.1555A\>G | A1555G\-F136 | A1555G\-F136\-IV14 | Fam | F | N | N | ND | 10 | Homo | / | / | / | Healthy | onset: NA; aminoglycoside exposure: No |

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