A1555G-F106

**Figure 1\. Pedigree diagram for family A1555G\-F106\.**

![](/media/202607/A1555G-F106-pedigree_20260701020802895594.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\-F106 | Japan | Nonsyndromic sensorineural hearing loss/deafness, tinnitus; no aminoglycoside exposure reported | 90 | 32 | 2004 | [15179218](https://pubmed.ncbi.nlm.nih.gov/15179218/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F106 from Japan with nonsyndromic sensorineural hearing loss/deafness, tinnitus; no aminoglycoside exposure reported. The pedigree record reported 90 unaffected and 32 affected maternal relatives, and the carrier table includes 41 listed carriers. Homoplasmy was reported in all listed carriers; 21/41 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss, hearing loss and, or tinnitus phenotype indicated.

# 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\-F106 | A1555G\-F106\-V10 | Fam | F | Y | Y | ND | ND | Homo | / | / | / | Hearing loss | exact age not reported; Proband; in large maternal hearing\-loss family; indicated in Fig. 1/Fig. 2 |
| 2 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV19 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | heterozygous GJB2 299\-300delAT without significant hearing loss |
| 3 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 4 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-III8 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 5 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV1 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 6 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV4 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 7 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV5 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 8 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV7 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 9 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV9 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 10 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV10 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 11 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV11 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 12 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV12 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 13 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV26 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 14 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV33 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 15 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV34 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 16 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-IV35 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 17 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V1 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 18 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 19 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V7 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 20 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V11 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 21 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V12 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 22 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V15 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 23 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V16 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 24 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V17 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 25 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V18 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 26 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V19 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 27 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V21 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 28 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V23 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 29 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V24 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 30 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V26 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 31 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V27 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 32 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V50 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 33 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V51 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 34 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V52 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 35 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-V53 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Phenotype unresolved/unknown symbol in Fig. 1 |
| 36 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-VI2 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing loss and/or tinnitus phenotype indicated | detailed degree/onset summarized in Fig. 2; by Fig. 1 symbol |
| 37 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-VI3 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 38 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-VI5 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 39 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-VI6 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 40 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-VI12 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |
| 41 | 1555 | m.1555A\>G | A1555G\-F106 | A1555G\-F106\-VI13 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Fig. 1 open symbol |

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