A7445G

# General Information

| **Position** | **7445** | **Variant** | **m.7445A\>G** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **Term514Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | NA | **Pathogenicity** | Cfrm \[P] |

"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.7445A\>G** variant in MT\-CO1 has been reported in 9 pedigrees. To date, 16 carriers have been reported. Homoplasmy was reported in 12/16 carriers (75%), and 14/16 carriers (87\.5%) were affected. The main clinical manifestations among affected carriers included progressive bilateral sensorineural hearing loss, sensorineural hearing loss, palmoplantar keratoderma, 110 dB, 58 dB, long\-standing bilateral sensorineural hearing loss, moderate progressive hearing loss, moderate sensorineural hearing loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7445 | m.7445A\>G | A7445G\-F1 | Polish | Nonsyndromic or aminoglycoside\-induced hearing loss | 1 | 5 | 2011 | [21621438](https://pubmed.ncbi.nlm.nih.gov/21621438/) | G39 |
| 2 | 7445 | m.7445A\>G | A7445G\-F2 | Chinese | Hearing loss | ND | ND | 2020 | [32169613](https://pubmed.ncbi.nlm.nih.gov/32169613/) | SD321 |
| 3 | 7445 | m.7445A\>G | A7445G\-F9 | UK | Nonsyndromic sensorineural hearing loss | 28 | 10 | 1994 | [7994888](https://pubmed.ncbi.nlm.nih.gov/7994888/) |  |
| 4 | 7445 | m.7445A\>G | A7445G\-F8 | New Zealand | Palmoplantar keratoderma and sensorineural hearing loss | ND | ND | 1995 | [8572257](https://pubmed.ncbi.nlm.nih.gov/8572257/) |  |
| 5 | 7445 | m.7445A\>G | A7445G\-F3 | Japan | Palmoplantar keratoderma and sensorineural hearing loss | NA | NA | 1998 | [9450881](https://pubmed.ncbi.nlm.nih.gov/9450881/) | Japanese pedigree |
| 6 | 7445 | m.7445A\>G | [A7445G\-F4](https://mitofam.com/doc/889/) | France | Palmoplantar keratoderma and sensorineural hearing loss | 5 | 3 | 2000 | [11069477](https://pubmed.ncbi.nlm.nih.gov/11069477/) |  |
| 7 | 7445 | m.7445A\>G |[ A7445G\-F5](https://mitofam.com/doc/890/) | Ukraine | Nonsyndromic sensorineural hearing loss | 4 | 6 | 2001 | [11175301](https://pubmed.ncbi.nlm.nih.gov/11175301/) |  |
| 8 | 7445 | m.7445A\>G | [A7445G\-F6](https://mitofam.com/doc/891/) | Hungary | Nonsyndromic sensorineural hearing loss | 3 | 2 | 2008 | [18537605](https://pubmed.ncbi.nlm.nih.gov/18537605/) |  |
| 9 | 7445 | m.7445A\>G | [A7445G\-F7](https://mitofam.com/doc/892/) | Japan | Progressive sensorineural hearing loss | 0 | 6 | 2018 | [29605341](https://pubmed.ncbi.nlm.nih.gov/29605341/) |  |

# 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 | 7445 | m.7445A\>G | A7445G\-F1 | A7445G\-F1\-III\-1 | Fam | M | Y | Y | A | 2y onset | Homo | / | / | / | Moderate progressive hearing loss; PTA 68/58 dB | Aminoglycoside exposure\=Yes; ; homoplasmic sequence variant |
| 2 | 7445 | m.7445A\>G | A7445G\-F2 | A7445G\-F2\-P1 | Uninf | F | Y | Y | A | \<1y onset | Homo | / | / | / | Profound hearing loss; PTA 100/110 dB | Aminoglycoside exposure\=Yes |
| 3 | 7445 | m.7445A\>G | A7445G\-F9 | A7445G\-F9\-III\-29 | Fam | ND | Y | Y | A | ND | Homo | / | / | / | Progressive bilateral sensorineural hearing loss |  |
| 4 | 7445 | m.7445A\>G | A7445G\-F8 | A7445G\-F8\-IV\-5 | Fam | ND | Y | Y | A | ND | \>95% | / | / | / | Progressive sensorineural hearing loss, palmoplantar keratoderma |  |
| 5 | 7445 | m.7445A\>G | A7445G\-F3 | A7445G\-F3\-P1 | Fam | ND | Y | Y | A | ND | Homo | / | / | / | Sensorineural hearing loss, palmoplantar keratoderma | Japanese pedigree |
| 6 | 7445 | m.7445A\>G | A7445G\-F4 | A7445G\-F4\-III1 | Fam | F | Y | Y | A | 15 | Homo | / | / | / | Plantar keratoderma, bilateral sensorineural deafness |  |
| 7 | 7445 | m.7445A\>G | A7445G\-F4 | A7445G\-F4\-III2 | Fam | M | N | Y | A | 11 | Homo | / | / | / | Moderate sensorineural hearing loss |  |
| 8 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-IV1 | Fam | F | Y | Y | A | 20 | Homo | / | / | / | Progressive bilateral sensorineural hearing loss |  |
| 9 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-IV2 | Fam | F | N | Y | A | 15 | Homo | / | / | / | Progressive bilateral sensorineural hearing loss |  |
| 10 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-III2 | Fam | F | N | Y | A | 28 | Homo | / | / | / | Long\-standing bilateral sensorineural hearing loss |  |
| 11 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-III3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing impairment |  |
| 12 | 7445 | m.7445A\>G | A7445G\-F6 | A7445G\-F6\-III2 | Fam | ND | Y | Y | A | ND | Homo | / | / | / | Sensorineural hearing loss |  |
| 13 | 7445 | m.7445A\>G | A7445G\-F6 | A7445G\-F6\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Normal hearing |  |
| 14 | 7445 | m.7445A\>G | A7445G\-F6 | A7445G\-F6\-I2 | Uninf | F | N | ND | A | ND | 90% | / | / | / | Healthy |  |
| 15 | 7445 | m.7445A\>G | A7445G\-F7 | A7445G\-F7\-IV2 | Fam | M | Y | Y | A | 1 | 87\.3% | / | / | 86\.3%(F) | Progressive sensorineural hearing loss in infancy |  |
| 16 | 7445 | m.7445A\>G | A7445G\-F7 | A7445G\-F7\-III4 | Fam | F | N | Y | A | ND | 86% | / | / | / | Progressive sensorineural hearing loss since childhood | Mother of proband |

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