A1555G-F63

**Figure 1\. Pedigree diagram for family A1555G\-F63\.**

![](/media/202607/A1555G-F63-pedigree_20260701022245016231.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\-F63 | China | Maternally inherited nonsyndromic/aminoglycoside\-associated hearing loss | 4 | 16 | 2013 | [23774020](https://pubmed.ncbi.nlm.nih.gov/23774020/) | Family FE163; with A4317G |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F63 from China with maternally inherited nonsyndromic/aminoglycoside\-associated hearing loss. The pedigree record reported 4 unaffected and 16 affected maternal relatives, and the carrier table includes 21 listed carriers. Homoplasmy was reported in all listed carriers; 17/21 carriers were affected, and the main clinical manifestation among affected carriers was extremely severe hearing loss, pta l95, r104, sloping audiogram, severe hearing loss, pta l81, r85, flat audiogram.

# 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\-F63 | A1555G\-F63\-III3 | Fam | M | Y | Y | A | 22 years; onset 2 years | Homo | / | / | / | Extremely severe hearing loss; PTA L95/R104; sloping audiogram | Carrying A4317G; proband; aminoglycoside history; wears hearing aid |
| 2 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-I2 | Uninf | F | N | Y | A | 74 years; onset 40 years | Homo | / | / | / | severe hearing loss; PTA L81/R85; flat audiogram | Carrying A4317G |
| 3 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-II2 | Fam | F | N | Y | A | 44 years; onset ND | Homo | / | / | / | moderate hearing loss; PTA L63/R52; sloping audiogram | Carrying A4317G |
| 4 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-II3 | Fam | M | N | Y | A | 47 years; onset 5 years | Homo | / | / | / | Severe hearing loss; PTA L85/R88; sloping audiogram | Carrying A4317G; aminoglycoside history |
| 5 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-II6 | Fam | F | N | Y | A | 55 years; onset ND | Homo | / | / | / | moderate hearing loss; PTA L41/R41; sloping audiogram | Carrying A4317G |
| 6 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-II8 | Fam | F | N | Y | A | 52 years; onset 2 years | Homo | / | / | / | moderate hearing loss; PTA L83/R53; trough audiogram | Carrying A4317G |
| 7 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III1 | Fam | M | N | Y | A | 24 years; onset ND | Homo | / | / | / | moderate hearing loss; PTA L59/R58; sloping audiogram | Carrying A4317G |
| 8 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III7 | Fam | M | N | Y | A | 34 years; onset ND | Homo | / | / | / | severe hearing loss; PTA L71/R73; sloping audiogram | Carrying A4317G |
| 9 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III9 | Fam | M | N | Y | A | 32 years; onset ND | Homo | / | / | / | moderate hearing loss; PTA L55/R61; sloping audiogram | Carrying A4317G |
| 10 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III12 | Fam | F | N | Y | A | 29 years; onset ND | Homo | / | / | / | moderate hearing loss; PTA L58/R65; trough audiogram | Carrying A4317G |
| 11 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III13 | Fam | M | N | Y | A | 15 years; onset 0 years | Homo | / | / | / | Extremely severe hearing loss; PTA L88/R97; sloping audiogram | Carrying A4317G; aminoglycoside history |
| 12 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III15 | Fam | F | N | Y | A | 30 years; onset ND | Homo | / | / | / | mild hearing loss; PTA L40/R35; flat audiogram | Carrying A4317G |
| 13 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III16 | Fam | F | N | Y | A | 27 years; onset ND | Homo | / | / | / | mild hearing loss; PTA L43/R32; notched audiogram | Carrying A4317G |
| 14 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III17 | Fam | F | N | Y | A | 23 years; onset ND | Homo | / | / | / | mild hearing loss; PTA L42/R31; notched audiogram | Carrying A4317G |
| 15 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III18 | Fam | F | N | Y | A | 19 years; onset ND | Homo | / | / | / | mild hearing loss; PTA L31/R29; sloping audiogram | Carrying A4317G |
| 16 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-III19 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | Fig. 1; death slash shown |
| 17 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-IV5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Fig. 1 |
| 18 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-IV6 | Fam | F | N | Y | A | 10 years; onset ND | Homo | / | / | / | mild hearing loss; PTA L30/R33; flat audiogram | Carrying A4317G |
| 19 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-IV7 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Fig. 1 |
| 20 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-IV8 | Fam | F | N | Y | A | 9 years; onset ND | Homo | / | / | / | mild hearing loss; PTA L32/R33; flat audiogram | Carrying A4317G |
| 21 | 1555 | m.1555A\>G | A1555G\-F63 | A1555G\-F63\-IV9 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Fig. 1 |

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