A1555G-F2

**Figure 1\. Pedigree diagram for family A1555G\-F2\.**

![](/media/202607/A1555G-F2-pedigree_20260701021635946146.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\-F2 | Spain | Nonsyndromic sensorineural hearing loss | 1 | 6 | 1997 | [9040738](https://pubmed.ncbi.nlm.nih.gov/9040738/) | Family 2 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F2 from Spain with nonsyndromic sensorineural hearing loss. The pedigree record reported 1 unaffected and 6 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 1/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was bilateral sensorineural hearing loss since age 1\-2, bilateral sensorineural deafness, progressive bilateral sensorineural hearing loss since age 15, progressive hearing loss since age 10, clinically deaf.

# 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\-F2 | A1555G\-F2\-III5 | Fam | F | Y | Y | A | 23 | Homo | / | / | / | Bilateral sensorineural hearing loss since age 1\-2 |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F2 | A1555G\-F2\-II2 | Fam | M | N | Y | A | 54 | 85% | / | / | / | Bilateral sensorineural deafness | Maternal uncle |
| 3 | 1555 | m.1555A\>G | A1555G\-F2 | A1555G\-F2\-II4 | Fam | F | N | Y | A | 45 | 91% | / | / | / | Progressive bilateral sensorineural hearing loss since age 15 | Mother of proband; worsened after streptomycin |
| 4 | 1555 | m.1555A\>G | A1555G\-F2 | A1555G\-F2\-III6 | Fam | F | N | Y | A | 20 | 94% | / | / | / | Progressive hearing loss since age 10 | Sister of proband |
| 5 | 1555 | m.1555A\>G | A1555G\-F2 | A1555G\-F2\-III2 | Fam | F | N | Y | A | ND | \>99% | / | / | / | Clinically deaf | homoplasmic/\>99% A1555G by Figure 2 |

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