A1027G

# **General Information**

| **Position** | **1027** | **Variant** | **m.1027A\>G** | **Locus** | **MT\-RNR1** | **RNA** | **12S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | N/A | **Pathogenicity** | Reported \[VUS] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.1027A\>G** variant in MT\-RNR1 has been reported in 6 pedigrees. To date, 6 carriers have been reported. Homoplasmy was reported in 6/6 carriers (100%), and 6/6 carriers (100%) were affected. The main clinical manifestations among affected carriers included PTA R, profound hearing loss, flat audiogram, 98 dB, slope audiogram, 105 dB, 79 dB, 85 dB, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1027 | m.1027A\>G | A1027G\-F1 | China | five pedigrees with aminoglycoside\-induced and nonsyndromic hearing impairment | ND | ND | 2011 | [21205314](https://pubmed.ncbi.nlm.nih.gov/21205314/) | Family 21205314 |
| 2 | 1027 | m.1027A\>G | A1027G\-F2 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 3 | 1027 | m.1027A\>G | A1027G\-F3 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 4 | 1027 | m.1027A\>G | A1027G\-F4 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 5 | 1027 | m.1027A\>G | A1027G\-F5 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 6 | 1027 | m.1027A\>G | A1027G\-F6 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |

# **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 | 1027 | m.1027A\>G | A1027G\-F1 | A1027G\-F1\-II1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | PTA R/L 82/85 dB; severe | Original carrier ID: FE239\-II\-1; slope; pedigree has three matrilineal affected relatives; aminoglycoside: No |
| 2 | 1027 | m.1027A\>G | A1027G\-F2 | A1027G\-F2\-III7 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 99/99 dB; flat audiogram; profound hearing loss | Original carrier ID: YJ067\-III\-7; Aminoglycoside exposure reported; family history No |
| 3 | 1027 | m.1027A\>G | A1027G\-F3 | A1027G\-F3\-III5 | Uninf | F | Y | Y | A | ND | Homo | / | / | / | PTA R/L 78/79 dB; slope audiogram; severe hearing loss | Original carrier ID: QZ104\-III\-5; Aminoglycoside exposure reported; family history No |
| 4 | 1027 | m.1027A\>G | A1027G\-F4 | A1027G\-F4\-IV6 | Uninf | F | Y | Y | A | ND | Homo | / | / | / | PTA R/L 110/105 dB; flat audiogram; profound hearing loss | Original carrier ID: QZ055\-IV\-6; Aminoglycoside exposure reported; family history No |
| 5 | 1027 | m.1027A\>G | A1027G\-F5 | A1027G\-F5\-IV3 | Uninf | F | Y | Y | A | ND | Homo | / | / | / | PTA R/L 101/98 dB; flat audiogram; profound hearing loss | Original carrier ID: YQ062\-IV\-3; Aminoglycoside exposure reported; family history Yes; GJB2 235delC/235delC reported |
| 6 | 1027 | m.1027A\>G | A1027G\-F6 | A1027G\-F6\-P1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 95/98 dB; slope audiogram; profound hearing loss | Original carrier ID: LS109; Aminoglycoside exposure reported; family history No |

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