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MT-CYB
A15579G
A15662G
A15662G-F1
C15347T
C15620A
C15620A-F1
G14846A
G14846A-F1
C15800T
G15043A
G15043A-F1
G15059A
G15077A
G15077A-F1
G15084A
G15092A
G15150A
G15168A
G15170A
G15215A
G15243A
G15242A
G15350A
G15497A
G15497A-F1
G15498A
G15498A-F2
G15723A
G15699C
G15699C-F1
G15615A
G15615A-F1
G15761A
G15762A
G15812A
G15812A-F1
T14849C
T14864C
T15287C
T15287C-F1
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G15498A-F2
**Figure 1\. Pedigree diagram for family G15498A\-F2\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 15498 | m.15498G\>A | G15498A\-F2 | Japan | Sensorineural Hearing Loss (SNHL), Wolff\-Parkinson\-White (WPW) Syndrome | 9 | 1 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | | The **m.15498G\>A** variant in MT\-CYB was reported in family G15498A\-F2 from Japan with sensorineural hearing loss (snhl), wolff\-parkinson\-white (wpw) syndrome. The pedigree record reported 9 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 1/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was sensorineural hearing loss (snhl), wolff\-parkinson\-white (wpw) syndrome. # 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 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-II6 | Uninf | F | Y | Y | A | 54 | Homo | / | / | / | Sensorineural Hearing Loss (SNHL), Wolff\-Parkinson\-White (WPW) Syndrome | | | 2 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. | | 3 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. | | 4 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III6 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. | | 5 | 15498 | m.15498G\>A | G15498A\-F2 | G15498A\-F2\-III7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother II\-6 has confirmed mutation load and child phenotype is explicitly reported. | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoyu He
2026年6月30日 16:27
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