A1555G-F99

**Figure 1\. Pedigree diagram for family A1555G\-F99\.**

![](/media/202607/A1555G-F99-pedigree_20260701022618696953.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\-F99 | Spain | Nonsyndromic hearing loss with heteroplasmic and homoplasmic A1555G carriers | 1 | 3 | 2003 | [12920080](https://pubmed.ncbi.nlm.nih.gov/12920080/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F99 from Spain with nonsyndromic hearing loss with heteroplasmic and homoplasmic a1555g carriers. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was mild u\-shaped hearing loss with low\-level.

# 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\-F99 | A1555G\-F99\-III2 | Fam | F | ND | N | A | ND | 4\.79% | / | / | / | Healthy |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F99 | A1555G\-F99\-IV1 | Fam | F | ND | Y | A | 5 | 3\.75% | / | / | / | Mild U\-shaped hearing loss with low\-level | heteroplasmy |
| 3 | 1555 | m.1555A\>G | A1555G\-F99 | A1555G\-F99\-II1 | Fam | F | ND | ND | A | ND | 100% | / | / | / | ND | Homoplasmic carrier; affected symbol in pedigree |
| 4 | 1555 | m.1555A\>G | A1555G\-F99 | A1555G\-F99\-II2 | Fam | F | ND | ND | A | ND | 100% | / | / | / | ND | Homoplasmic carrier; affected symbol in pedigree |

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