A1555G-F1

**Figure 1\. Pedigree diagram for family A1555G\-F1\.**

![](/media/202607/A1555G-F1-pedigree_20260701020709098033.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\-F1 | Spain | Nonsyndromic sensorineural hearing loss | 5 | 16 | 1997 | [9040738](https://pubmed.ncbi.nlm.nih.gov/9040738/) | Family 1 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F1 from Spain with nonsyndromic sensorineural hearing loss. The pedigree record reported 5 unaffected and 16 affected maternal relatives, and the carrier table includes 22 listed carriers. Homoplasmy was reported in all listed carriers; 12/22 carriers were affected, and the main clinical manifestation among affected carriers was bilateral sensorineural deafness, two affected children., bilateral sensorineural deafness since age 18, 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\-F1 | A1555G\-F1\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-III6 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-III7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-III9 | Fam | F | N | Y | A | 49 | Homo | / | / | / | Bilateral sensorineural deafness; two affected children. |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-III10 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-III12 | Fam | F | Y | Y | A | 54 | Homo | / | / | / | Bilateral sensorineural deafness since age 18 | no aminoglycoside exposure before onset |
| 7 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV18 | Fam | M | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 8 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV19 | Fam | M | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 9 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV20 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 10 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV21 | Fam | M | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 11 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV26 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clinically deaf | child of III\-9 |
| 12 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV27 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clinically deaf | child of III\-9 |
| 13 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV28 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 14 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV29 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 15 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV30 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 16 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV34 | Fam | M | N | ND | A | ND | Homo | / | / | / | ND | child of the proband; onset age within IV\-34 to IV\-38 group was 6\-14 years; no aminoglycoside exposure |
| 17 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV35 | Fam | M | N | ND | A | ND | Homo | / | / | / | ND | child of the proband; onset age within IV\-34 to IV\-38 group was 6\-14 years; no aminoglycoside exposure |
| 18 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV36 | Fam | M | N | ND | A | ND | Homo | / | / | / | ND | child of the proband; onset age within IV\-34 to IV\-38 group was 6\-14 years; no aminoglycoside exposure |
| 19 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV37 | Fam | F | N | ND | A | ND | Homo | / | / | / | ND | child of the proband; onset age within IV\-34 to IV\-38 group was 6\-14 years; no aminoglycoside exposure |
| 20 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-IV38 | Fam | F | N | ND | A | ND | Homo | / | / | / | ND | child of the proband; onset age within IV\-34 to IV\-38 group was 6\-14 years; no aminoglycoside exposure |
| 21 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-V12 | Fam | M | N | Y | A | ND | Homo | / | / | / | Clinically deaf | homoplasmic A1555G by Figure 1 solid symbol |
| 22 | 1555 | m.1555A\>G | A1555G\-F1 | A1555G\-F1\-V13 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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