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MT-COX1
A6307G
A6474G
A7222G
A7222G-F1
A7299G
A7445C
A7445G
A7445G-F6
A7445G-F5
A7445G-F4
A7445G-F7
A7445T
C6328T
C6489A
C6489A-F1
C6597A
C6597A-F1
G5906A
G5913A-F1
G5913A
G5920A
G6261A
G6480A
G6480A-F1
G6579A
G6708A
G6955A
G6962A
G7023A
G7444A
G7444A-F21
G7444A-F9
T6459C
T6459C-F1
T6526C
T6547C
T6721C
T6742C
G6930A
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A7445G-F5
**Figure 1\. Pedigree diagram for family A7445G\-F5\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 7445 | m.7445A\>G | A7445G\-F5 | Ukraine | Nonsyndromic sensorineural hearing loss | 4 | 6 | 2001 | [11175301](https://pubmed.ncbi.nlm.nih.gov/11175301/) | | The **m.7445A\>G** variant in MT\-CO1 was reported in family A7445G\-F5 from Ukraine with nonsyndromic sensorineural hearing loss. The pedigree record reported 4 unaffected and 6 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was progressive bilateral sensorineural hearing loss, long\-standing bilateral sensorineural hearing loss, nonsyndromic hearing impairment. # 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\-F5 | A7445G\-F5\-IV1 | Fam | F | Y | Y | A | 20 | Homo | / | / | / | Progressive bilateral sensorineural hearing loss | | | 2 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-IV2 | Fam | F | N | Y | A | 15 | Homo | / | / | / | Progressive bilateral sensorineural hearing loss | | | 3 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-III2 | Fam | F | N | Y | A | 28 | Homo | / | / | / | Long\-standing bilateral sensorineural hearing loss | | | 4 | 7445 | m.7445A\>G | A7445G\-F5 | A7445G\-F5\-III3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing impairment | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月26日 16:56
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