A1555G-F118

**Figure 1\. Pedigree diagram for family A1555G\-F118\.**

![](/media/202607/A1555G-F118-pedigree_20260701020946010539.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\-F118 | China | Nonsyndromic/aminoglycoside\-associated hearing impairment; modifier m.4317A\>G also present | 6 | 16 | 2018 | [29348176](https://pubmed.ncbi.nlm.nih.gov/29348176/) | Family WZD91; with A4317G |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F118 from China with nonsyndromic/aminoglycoside\-associated hearing impairment; modifier m.4317a\>g also present. The pedigree record reported 6 unaffected and 16 affected maternal relatives, and the carrier table includes 23 listed carriers. Homoplasmy was reported in all listed carriers; 17/23 carriers were affected, and the main clinical manifestation among affected carriers was hearing impaired, hearing impaired wzd91, hearing impaired maternal ancestor.

# 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\-F118 | A1555G\-F118\-III3 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | Hearing impaired | Original carrier ID: WZD91\-III\-3; Carrying A4317G; proband; WZD91; in Figure 1D |
| 2 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III1 | Fam | M | N | Y | ND | 24 | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-1; Carrying A4317G; matrilineal relative; cell\-line donor; age 24 |
| 3 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III9 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-9; Carrying A4317G; matrilineal relative |
| 4 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III17 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-17; Carrying A4317G; matrilineal relative |
| 5 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV5 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD91\-IV\-5; Carrying A4317G |
| 6 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV10 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD91\-IV\-10; Carrying A4317G |
| 7 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-I2 | Uninf | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired maternal ancestor | Original carrier ID: WZD91\-I\-2; Carrying A4317G; WZD91 |
| 8 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-II2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-II\-2; Carrying A4317G; matrilineal relative |
| 9 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-II3 | Fam | M | N | Y | ND | 47 | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-II\-3; Carrying A4317G; matrilineal relative; cell\-line donor age 47 |
| 10 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-II6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-II\-6; Carrying A4317G; matrilineal relative |
| 11 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-II8 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-II\-8; Carrying A4317G; matrilineal relative |
| 12 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III7 | Fam | M | N | Y | ND | 34 | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-7; Carrying A4317G; matrilineal relative; cell\-line donor age 34 |
| 13 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III12 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-12; Carrying A4317G; matrilineal relative |
| 14 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III13 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-13; Carrying A4317G; matrilineal relative |
| 15 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III15 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-15; Carrying A4317G; matrilineal relative |
| 16 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III19 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-19; Carrying A4317G; matrilineal relative |
| 17 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III20 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-III\-20; Carrying A4317G; matrilineal relative |
| 18 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-III21 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD91\-III\-21; Carrying A4317G; matrilineal relative |
| 19 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-IV\-6; Carrying A4317G; matrilineal relative |
| 20 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV7 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Hearing impaired WZD91 | Original carrier ID: WZD91\-IV\-7; Carrying A4317G; matrilineal relative |
| 21 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV8 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD91\-IV\-8; Carrying A4317G |
| 22 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV9 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD91\-IV\-9; Carrying A4317G |
| 23 | 1555 | m.1555A\>G | A1555G\-F118 | A1555G\-F118\-IV11 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD91\-IV\-11; Carrying A4317G |

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