G988A

# **General Information**

| **Position** | **988** | **Variant** | **m.988G\>A** | **Locus** | **MT\-RNR1** | **RNA** | **12S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **mitoTIP** | N/A | **Pathogenicity** | Reported |

"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.988G\>A** variant in MT\-RNR1 has been reported in 4 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included hearing loss, 107, 25, 33, \>120, PTA 113, PTA 33, PTA 62, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 988 | m.988G\>A | G988A\-F1 | Poland | Nonsyndromic and aminoglycoside\-induced hearing loss | ND | ND | 2010 | [20353758](https://pubmed.ncbi.nlm.nih.gov/20353758/) | Family M8b |
| 2 | 988 | m.988G\>A | G988A\-F2 | Poland | Nonsyndromic and aminoglycoside\-induced hearing loss | ND | ND | 2010 | [20353758](https://pubmed.ncbi.nlm.nih.gov/20353758/) | Family G110 |
| 3 | 988 | m.988G\>A | G988A\-F3 | Poland | Nonsyndromic and aminoglycoside\-induced hearing loss | ND | ND | 2010 | [20353758](https://pubmed.ncbi.nlm.nih.gov/20353758/) | Family 36A |
| 4 | 988 | m.988G\>A | G988A\-F4 | Poland | Nonsyndromic and aminoglycoside\-induced hearing loss | ND | ND | 2010 | [20353758](https://pubmed.ncbi.nlm.nih.gov/20353758/) | Family W61B |

# **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 | 988 | m.988G\>A | G988A\-F1 | G988A\-F1\-P1 | Uninf | F | Y | Y | ND | onset 41 | Homo | / | / | / | Hearing loss; PTA 62/25 | Original carrier ID: M8b; Gentamycin exposure; gentamicin exposure; no family history |
| 2 | 988 | m.988G\>A | G988A\-F2 | G988A\-F2\-P1 | Uninf | M | Y | Y | ND | onset 0 | Homo | / | / | / | Hearing loss; PTA 113/107 | Original carrier ID: G110; no aminoglycoside exposure; no family history |
| 3 | 988 | m.988G\>A | G988A\-F3 | G988A\-F3\-P1 | Uninf | M | Y | Y | ND | onset 0 | Homo | / | / | / | Hearing loss; PTA \>120/\>120 | Original carrier ID: 36A; no aminoglycoside exposure; no family history |
| 4 | 988 | m.988G\>A | G988A\-F4 | G988A\-F4\-P1 | Fam | M | Y | Y | ND | onset 3 | Homo | / | / | / | Hearing loss; PTA 33/33 | Original carrier ID: W61B; no aminoglycoside exposure; family history yes (4 affected maternal relatives) |

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