A3243G-F20

**Figure 1\. Pedigree diagram for family A3243G\-F20\.**

![](/media/202607/A3243G-F20-pedigree_20260701025953863096.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F20 | Netherlands | Maternally transmitted type II diabetes mellitus and sensorineural hearing loss | 5 | 16 | 1992 | [1284550](https://pubmed.ncbi.nlm.nih.gov/1284550/) | Large Dutch pedigree; group blood heteroplasmy range applies to descendants from affected females where individual percentages are not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F20 from Netherlands with maternally transmitted type ii diabetes mellitus and sensorineural hearing loss. The pedigree record reported 5 unaffected and 16 affected maternal relatives, and the carrier table includes 22 listed carriers. Homoplasmy was reported in 0/22 listed carriers; 22/22 carriers were affected, and the main clinical manifestation among affected carriers was niddm onset 27, sensorineural hearing loss, niddm onset 42, niddm onset 38, niddm onset 36, no ragged\-red fibers on muscle biopsy, niddm onset 37, niddm onset 39\.

# 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 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II1 | Fam | F | N | Y | ND | 61 | 5\-30% | / | / | / | NIDDM onset 27; Sensorineural hearing loss | Blood A3243G reported in descendants from affected females; individual percentage not reported. |
| 2 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II2 | Fam | M | N | Y | ND | 60 | 5\-30% | / | / | / | NIDDM onset 42; Sensorineural hearing loss | Blood A3243G group range; his children are excluded because paternal transmission does not qualify. |
| 3 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II3 | Fam | M | N | Y | ND | 58 | 5\-30% | / | / | / | NIDDM onset 38; Sensorineural hearing loss | Blood A3243G group range; his children are excluded because paternal transmission does not qualify. |
| 4 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II4 | Fam | M | Y | Y | ND | 56 | 4% | 38% | / | 41%(F) | NIDDM onset 36; Sensorineural hearing loss; No ragged\-red fibers on muscle biopsy | Proband; specific loads are blood 4%, muscle 38%, fibroblasts 41%. |
| 5 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II5 | Fam | F | N | Y | ND | 55 | 5\-30% | / | / | / | NIDDM onset 37; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 6 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II6 | Fam | F | N | Y | ND | 53 | 5\-30% | / | / | / | NIDDM onset 39; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 7 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II7 | Fam | F | N | Y | ND | 51 | 5\-30% | / | / | / | NIDDM onset 40; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 8 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II8 | Fam | F | N | Y | ND | 49 | 5\-30% | / | / | / | NIDDM onset 24; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 9 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II9 | Fam | M | N | Y | ND | 46 | 5\-30% | / | / | / | NIDDM onset 32; Sensorineural hearing loss | Blood A3243G group range; his children are excluded because paternal transmission does not qualify. |
| 10 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III1 | Fam | M | N | Y | ND | 33 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-1; blood A3243G group range. |
| 11 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III2 | Fam | F | N | Y | ND | 31 | 5\-30% | / | / | / | NIDDM onset 20; Sensorineural hearing loss | Child of affected female II\-1; blood A3243G group range. |
| 12 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III3 | Fam | M | N | Y | ND | 28 | 5\-30% | / | / | / | NIDDM onset 22; Sensorineural hearing loss | Child of affected female II\-1; blood A3243G group range. |
| 13 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III13 | Fam | F | N | Y | ND | 31 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-5; blood A3243G group range. |
| 14 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III14 | Fam | F | N | Y | ND | 30 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-5; blood A3243G group range. |
| 15 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III15 | Fam | M | N | Y | ND | 24 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-5; blood A3243G group range. |
| 16 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III16 | Fam | M | N | Y | ND | 27 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-6; blood A3243G group range. |
| 17 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III17 | Fam | M | N | Y | ND | 25 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-6; blood A3243G group range. |
| 18 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III18 | Fam | F | N | Y | ND | 31 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-7; blood A3243G group range. |
| 19 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III19 | Fam | M | N | Y | ND | 23 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-7; blood A3243G group range. |
| 20 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III20 | Fam | M | N | Y | ND | 19 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-7; blood A3243G group range. |
| 21 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III21 | Fam | M | N | Y | ND | 33 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-8; blood A3243G group range. |
| 22 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III22 | Fam | F | N | Y | ND | 22 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-8; blood A3243G group range. |

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