A1555G-F120

**Figure 1\. Pedigree diagram for family A1555G\-F120\.**

![](/media/202607/A1555G-F120-pedigree_20260701021019476920.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\-F120 | China | Aminoglycoside\-induced and nonsyndromic hearing loss; modifier tRNAThr G15927A | 3 | 8 | 2008 | [18930888](https://pubmed.ncbi.nlm.nih.gov/18930888/) | Family WZD31 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F120 from China with aminoglycoside\-induced and nonsyndromic hearing loss; modifier trnathr g15927a. The pedigree record reported 3 unaffected and 8 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in all listed carriers; 9/12 carriers were affected, and the main clinical manifestation among affected carriers was severe hearing loss, flat audiogram, moderate hearing loss, slope audiogram, profound hearing loss, ridge audiogram, hearing impaired by filled.

# 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\-F120 | A1555G\-F120\-II2 | Fam | F | N | Y | ND | 55 | Homo | / | / | / | Severe hearing loss; flat audiogram | no aminoglycoside exposure; onset age 28 |
| 2 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-III4 | Fam | F | N | Y | ND | 28 | Homo | / | / | / | Moderate hearing loss; slope audiogram | no aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-III5 | Fam | M | N | Y | ND | 31 | Homo | / | / | / | Severe hearing loss; slope audiogram | aminoglycoside exposure; onset age 6 |
| 4 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-III7 | Fam | M | N | Y | ND | 33 | Homo | / | / | / | Profound hearing loss; slope audiogram | aminoglycoside exposure; onset age 5 |
| 5 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-IV2 | Fam | F | Y | Y | ND | 17 | Homo | / | / | / | Profound hearing loss; ridge audiogram | aminoglycoside exposure; onset age 2 |
| 6 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-IV1 | Fam | F | N | N | ND | 14 | Homo | / | / | / | Healthy |  |
| 7 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-I2 | Uninf | F | N | Y | ND | ND | Homo | / | / | Homo(ND) | Hearing impaired by filled | pedigree symbol; no age/PTA reported; G15927A modifier |
| 8 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-II3 | Fam | M | N | Y | ND | ND | Homo | / | / | Homo(ND) | Hearing impaired by filled | pedigree symbol; no age/PTA reported; G15927A modifier |
| 9 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-II4 | Fam | M | N | Y | ND | ND | Homo | / | / | Homo(ND) | Hearing impaired by filled | pedigree symbol; no age/PTA reported; G15927A modifier |
| 10 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-II5 | Fam | M | N | N | ND | ND | Homo | / | / | Homo(ND) | Healthy | pedigree symbol; no age/PTA reported; G15927A modifier |
| 11 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-III2 | Fam | F | N | Y | ND | 35 | Homo | / | / | Homo(ND) | Profound hearing loss; ridge audiogram | aminoglycoside exposure; onset age 3; G15927A modifier |
| 12 | 1555 | m.1555A\>G | A1555G\-F120 | A1555G\-F120\-IV3 | Fam | F | N | N | ND | ND | Homo | / | / | Homo(ND) | Healthy | pedigree symbol; no age/PTA reported; G15927A modifier |

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