A1555G-F98

**Figure 1\. Pedigree diagram for family A1555G\-F98\.**

![](/media/202607/A1555G-F98-pedigree_20260701022609761479.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\-F98 | Spain | Nonsyndromic hearing loss with heteroplasmic and homoplasmic A1555G carriers | 1 | 4 | 2003 | [12920080](https://pubmed.ncbi.nlm.nih.gov/12920080/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F98 from Spain with nonsyndromic hearing loss with heteroplasmic and homoplasmic a1555g carriers. The pedigree record reported 1 unaffected and 4 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 5/6 carriers were affected, and the main clinical manifestation among affected carriers was moderate, severe high\-frequency sensorineural hearing loss, bilateral sensorineural hearing loss, sensorineural 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\-F98 | A1555G\-F98\-II5 | Fam | F | ND | Y | A | 52 | 87\.30% | / | / | / | Moderate/severe high\-frequency sensorineural hearing loss | no reported aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F98 | A1555G\-F98\-II1 | Fam | M | ND | Y | A | 63 | 0 | / | / | / | Bilateral sensorineural hearing loss | peripheral blood tested negative for A1555G |
| 3 | 1555 | m.1555A\>G | A1555G\-F98 | A1555G\-F98\-II3 | Fam | F | ND | N | A | ND | 0 | / | / | / | Healthy | peripheral blood tested negative for A1555G |
| 4 | 1555 | m.1555A\>G | A1555G\-F98 | A1555G\-F98\-III2 | Fam | M | ND | Y | A | 28 | 100% | / | / | / | Sensorineural hearing loss | Homoplasmic carrier with sensorineural hearing loss |
| 5 | 1555 | m.1555A\>G | A1555G\-F98 | A1555G\-F98\-III3 | Fam | F | ND | Y | A | 27 | 100% | / | / | / | Sensorineural hearing loss | Homoplasmic carrier with sensorineural hearing loss |
| 6 | 1555 | m.1555A\>G | A1555G\-F98 | A1555G\-F98\-III4 | Fam | M | ND | Y | A | 25 | 100% | / | / | / | Sensorineural hearing loss | Homoplasmic carrier with sensorineural hearing loss |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).