A1555G-F182

**Figure 1\. Pedigree diagram for family A1555G\-F182\.**

![](/media/202607/A1555G-F182-pedigree_20260701021136790243.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\-F182 | Japan | Maternally inherited hearing loss with A1555G | 14 | 5 | 2002 | [12031626](https://pubmed.ncbi.nlm.nih.gov/12031626/) | Family 2 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F182 from Japan with maternally inherited hearing loss with a1555g. The pedigree record reported 14 unaffected and 5 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss at age 5, sensorineural hearing loss of unknown cause, onset age 50\., onset age 8\..

# 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\-F182 | A1555G\-F182\-III16 | Fam | F | Y | Y | ND | 27 | / | / | / | / | Hearing loss at age 5 | after streptomycin |
| 2 | 1555 | m.1555A\>G | A1555G\-F182 | A1555G\-F182\-II11 | Fam | F | N | Y | ND | ND | / | / | / | / | Sensorineural hearing loss of unknown cause; onset age 50\. |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F182 | A1555G\-F182\-III15 | Fam | M | N | Y | ND | ND | / | / | / | / | Sensorineural hearing loss of unknown cause; onset age 8\. |  |
| 4 | 1555 | m.1555A\>G | A1555G\-F182 | A1555G\-F182\-III17 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | pedigree |

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