A1555G-F29

**Figure 1\. Pedigree diagram for family A1555G\-F29\.**

![](/media/202607/A1555G-F29-pedigree_20260701021911263471.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\-F29 | Spain | Leigh syndrome; sensorineural hearing loss | 3 | 10 | 2020 | [32867169](https://pubmed.ncbi.nlm.nih.gov/32867169/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F29 from Spain with leigh syndrome; sensorineural hearing loss. The pedigree record reported 3 unaffected and 10 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in all listed carriers; 8/10 carriers were affected, and the main clinical manifestation among affected carriers was sensorineural hearing loss, leigh syndrome and 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\-F29 | A1555G\-F29\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Sensorineural hearing loss |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-IV2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Sensorineural hearing loss |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-IV4 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Sensorineural hearing loss | mother of V\-2 |
| 4 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-IV6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Sensorineural hearing loss |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-IV7 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Sensorineural hearing loss |  |
| 6 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-V1 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Sensorineural hearing loss |  |
| 7 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-V2 | Fam | F | Y | Y | A | 23 | Homo | Homo | / | / | Leigh syndrome and sensorineural hearing loss |  |
| 8 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-V3 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 9 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-V4 | Fam | M | N | Y | A | 19 | Homo | / | / | Homo(F) | Leigh syndrome and sensorineural hearing loss |  |
| 10 | 1555 | m.1555A\>G | A1555G\-F29 | A1555G\-F29\-V5 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |

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