A4317G

# **General Information**

| **Position** | **4317** | **Variant** | **m.4317A\>G** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 2\.10% | **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.4317A\>G** variant in MT\-TI has been reported in 5 pedigrees. To date, 35 carriers have been reported. Homoplasmy was reported in 31/35 carriers (88\.6%), and 28/35 carriers (80%) were affected. The main clinical manifestations among affected carriers included hearing impairment, mild hearing impairment, moderate hearing impairment, severe hearing impairment, cerebellar ataxia, extreme hearing impairment, general weakness, profound bilateral hearing loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4317 | m.4317A\>G | A4317G\-F1 | Japan | Hypertrophic Cardiomyopathy | NA | NA | 1992 | [1433821](https://pubmed.ncbi.nlm.nih.gov/1433821/) |  |
| 2 | 4317 | m.4317A\>G | A4317G\-F2 | France | Cerebellar ataxia,myoclonies,pyramidal syndrome | NA | NA | 2013 | [23847141](https://pubmed.ncbi.nlm.nih.gov/23847141/) |  |
| 3 | 4317 | m.4317A\>G | [A4317G\-F3](https://mitofam.com/doc/617/) | China | Hearing impairment | 3 | 6 | 2018 | [30272361](https://pubmed.ncbi.nlm.nih.gov/30272361/) | Carrying A1555G |
| 4 | 4317 | m.4317A\>G | [A4317G\-F4](https://mitofam.com/doc/618/) | China | Hearing impairment | 0 | 1 | 2020 | [32169613](https://pubmed.ncbi.nlm.nih.gov/32169613/) |  |
| 5 | 4317 | m.4317A\>G | [A4317G\-F5](https://mitofam.com/doc/619/) | China | Hearing impairment | 4 | 16 | 2013 | [23774020](https://pubmed.ncbi.nlm.nih.gov/23774020/) | Carrying A1555G |

# **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 | 4317 | m.4317A\>G | A4317G\-F1 | A4317G\-F1\-P1 | Uninf | M | Y | Y | D | 1 | / | / | / | (Cardiac myocardial cells: \+) | General weakness, severe cardiomegaly, cyanosis, neck stiffness, anemia, metabolic acidosis, bradycardia, convulsions, cardiac failure |  |
| 2 | 4317 | m.4317A\>G | A4317G\-F2 | A4317G\-F2\-P1 | Uninf | M | Y | Y | ND | 16 | \+ | / | / | / | Cerebellar ataxia,myoclonies,pyramidal syndrome |  |
| 3 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 4 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 5 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II3 | Fam | M | N | Y | A | 55 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 6 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 7 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II8 | Fam | F | N | Y | A | 63 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 8 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II10 | Fam | F | N | Y | A | 60 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 9 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III7 | Fam | M | N | Y | A | 35 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 10 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III8 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 11 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III10 | Fam | F | N | Y | A | 30 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 12 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III12 | Fam | F | Y | Y | A | 28 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 13 | 4317 | m.4317A\>G | A4317G\-F4 | A4317G\-F4\-I2 | Uninf | F | N | Y | A | ND | \+ | / | / | / | Hearing impairment |  |
| 14 | 4317 | m.4317A\>G | A4317G\-F4 | A4317G\-F4\-II1 | Fam | F | Y | Y | A | ND | \+ | / | / | / | Hearing impairment |  |
| 15 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-I2 | Uninf | F | N | Y | A | 74 | Homo | / | / | / | Severe hearing impairment | Carrying A1555G |
| 16 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II2 | Fam | F | N | Y | A | 44 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 17 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II3 | Fam | M | N | Y | A | 47 | Homo | / | / | / | Severe hearing impairment | Carrying A1555G |
| 18 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II6 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 19 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II8 | Fam | F | N | Y | A | 52 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 20 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 21 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III3 | Fam | M | Y | Y | A | 22 | Homo | / | / | / | Profound bilateral hearing loss, gentamicin exposure | Carrying A1555G |
| 22 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III7 | Fam | M | N | Y | A | 34 | Homo | / | / | / | Severe hearing impairment | Carrying A1555G |
| 23 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III9 | Fam | M | N | Y | A | 32 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 24 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III12 | Fam | F | N | Y | A | 29 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 25 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III13 | Fam | M | N | Y | A | 15 | Homo | / | / | / | Extreme hearing impairment | Carrying A1555G |
| 26 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III15 | Fam | F | N | Y | A | 30 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 27 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III16 | Fam | F | N | Y | A | 27 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 28 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III17 | Fam | F | N | Y | A | 23 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 29 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III18 | Fam | F | N | Y | A | 19 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 30 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III19 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 31 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 32 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV6 | Fam | F | N | Y | A | 10 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 33 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV7 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 34 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV8 | Fam | F | N | Y | A | 9 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 35 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV9 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |

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