A1555G-F119

**Figure 1\. Pedigree diagram for family A1555G\-F119\.**

![](/media/202607/A1555G-F119-pedigree_20260701021001584077.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\-F119 | China | Aminoglycoside\-associated severe hearing loss in four matrilineal relatives; other members normal hearing | 2 | 3 | 2018 | [29348176](https://pubmed.ncbi.nlm.nih.gov/29348176/) | Family WZD92 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F119 from China with aminoglycoside\-associated severe hearing loss in four matrilineal relatives; other members normal hearing. The pedigree record reported 2 unaffected and 3 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was severe aminoglycoside\-associated hearing loss, severe aminoglycoside\-associated hearing loss in target\-positive maternal line.

# 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\-F119 | A1555G\-F119\-III13 | Fam | F | N | Y | ND | 35 | Positive | / | / | / | Severe aminoglycoside\-associated hearing loss | Original carrier ID: WZD92\-III\-13; A1555G\-only cell\-line donor; age 35 |
| 2 | 1555 | m.1555A\>G | A1555G\-F119 | A1555G\-F119\-III17 | Fam | F | N | N | ND | 28 | Positive | / | / | / | Healthy | Original carrier ID: WZD92\-III\-17 |
| 3 | 1555 | m.1555A\>G | A1555G\-F119 | A1555G\-F119\-III18 | Fam | M | N | N | ND | 31 | Positive | / | / | / | Healthy | Original carrier ID: WZD92\-III\-18 |
| 4 | 1555 | m.1555A\>G | A1555G\-F119 | A1555G\-F119\-II8 | Fam | F | Y | Y | ND | ND | Positive | / | / | / | Severe aminoglycoside\-associated hearing loss | Original carrier ID: WZD92\-II\-8; WZD92 proband sequenced by whole mtDNA analysis |
| 5 | 1555 | m.1555A\>G | A1555G\-F119 | A1555G\-F119\-III14 | Fam | M | N | Y | ND | ND | / | / | / | / | Severe aminoglycoside\-associated hearing loss in target\-positive maternal line | Original carrier ID: WZD92\-III\-14; individual molecular load not reported; WZD92 |
| 6 | 1555 | m.1555A\>G | A1555G\-F119 | A1555G\-F119\-III19 | Fam | M | N | Y | ND | ND | / | / | / | / | Severe aminoglycoside\-associated hearing loss in target\-positive maternal line | Original carrier ID: WZD92\-III\-19; individual molecular load not reported; WZD92 |

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