A1555G-F27

**Figure 1\. Pedigree diagram for family A1555G\-F27\.**

![](/media/202607/A1555G-F27-pedigree_20260701021853513829.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\-F27 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | 8 | 9 | 2012 | [22475488](https://pubmed.ncbi.nlm.nih.gov/22475488/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F27 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 8 unaffected and 9 affected maternal relatives, and the carrier table includes 18 listed carriers. Homoplasmy was reported in 8/18 listed carriers; 13/18 carriers were affected, and the main clinical manifestation among affected carriers was moderate bilateral sensorineural deafness, severe mixed type deafness, mild bilateral sensorineural deafness, high\-frequency hearing loss, profound mixed type 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\-F27 | A1555G\-F27\-I1 | Uninf | F | N | Y | A | 73 | 70\.60% | / | / | / | Moderate bilateral sensorineural deafness |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-II1 | Fam | F | N | Y | A | 53 | 97\.90% | / | / | / | Severe mixed type deafness |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-II3 | Fam | F | N | N | A | 48 | 85\.30% | / | / | / | Healthy |  |
| 4 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-II5 | Fam | F | N | Y | A | 44 | 70\.70% | / | / | / | Mild bilateral sensorineural deafness |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-II7 | Fam | F | N | Y | A | 41 | 49\.80% | / | / | / | High\-frequency hearing loss |  |
| 6 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-II9 | Fam | F | N | Y | A | 38 | 49\.60% | / | / | / | High\-frequency hearing loss |  |
| 7 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-II11 | Fam | F | N | Y | A | 35 | 49\.50% | / | / | / | High\-frequency hearing loss |  |
| 8 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III1 | Fam | F | Y | Y | A | 28 | Homo | / | / | / | Profound mixed type deafness |  |
| 9 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III2 | Fam | M | N | Y | A | 26 | Homo | / | / | / | Moderate bilateral sensorineural deafness |  |
| 10 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III3 | Fam | M | N | Y | A | 24 | Homo | / | / | / | Severe mixed type deafness |  |
| 11 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III4 | Fam | M | N | Y | A | 20 | Homo | / | / | / | Severe mixed type deafness |  |
| 12 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III5 | Fam | F | N | N | A | 26 | Homo | / | / | / | Healthy |  |
| 13 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III6 | Fam | F | N | Y | A | 20 | Homo | / | / | / | Severe mixed type deafness |  |
| 14 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III7 | Fam | F | N | Y | A | 16 | Homo | / | / | / | Profound mixed type deafness |  |
| 15 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III8 | Fam | F | N | Y | A | 13 | Homo | / | / | / | Moderate bilateral sensorineural deafness |  |
| 16 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III9 | Fam | M | N | N | A | 11 | 14\.80% | / | / | / | Healthy |  |
| 17 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III10 | Fam | F | N | N | A | 4 | 11\.90% | / | / | / | Healthy |  |
| 18 | 1555 | m.1555A\>G | A1555G\-F27 | A1555G\-F27\-III11 | Fam | M | N | N | A | 9 | 19\.40% | / | / | / | Healthy |  |

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