A1555G-F81

**Figure 1\. Pedigree diagram for family A1555G\-F81\.**

![](/media/202607/A1555G-F81-pedigree_20260701022449129741.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\-F81 | Italy | Nonsyndromic sensorineural hearing loss | 0 | 1 | 1998 | [9779807](https://pubmed.ncbi.nlm.nih.gov/9779807/) | Family B |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F81 from Italy with nonsyndromic sensorineural hearing loss. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was profound hearing loss from age 3, profound hearing loss.

# 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\-F81 | A1555G\-F81\-V13 | Fam | F | Y | Y | ND | 3 (onset age) | Homo | / | / | / | Profound hearing loss from age 3 | Proposita; apparently homoplasmic A1555G in blood |
| 2 | 1555 | m.1555A\>G | A1555G\-F81 | A1555G\-F81\-V11 | Fam | F | ND | Y | ND | 18 (onset/exposure) | Homo | / | / | / | Profound hearing loss | after streptomycin exposure; apparently homoplasmic A1555G in blood |

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