A3243G-F118

**Figure 1\. Pedigree diagram for family A3243G\-F118\.**

![](/media/202607/A3243G-F118-pedigree_20260701024929570453.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\-F118 | United Kingdom | NIDDM with sensorineural deafness and A3243G | 1 | 5 | 1994 | [8063037](https://pubmed.ncbi.nlm.nih.gov/8063037/) | Pedigree\-first family row; do not use aggregate carrier row. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F118 from United Kingdom with niddm with sensorineural deafness and a3243g. The pedigree record reported 1 unaffected and 5 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 6/7 carriers were affected, and the main clinical manifestation among affected carriers was niddm with bilateral nerve deafness, no melas neurological features reported, niddm and gradual hearing loss, hearing aid in right ear, diabetes in sixth decade and gradual hearing loss, died of myocardial infarction, bilateral high\-pitch hearing loss, ogtt within niddm criteria.

# 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\-F118 | A3243G\-F118\-III4 | Fam | M | Y | Y | A | 49 | / | / | / | / | NIDDM with bilateral nerve deafness; No MELAS neurological features reported | Index case III.4\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III2 | Fam | F | N | Y | A | 60 | / | / | / | / | NIDDM and gradual hearing loss; Hearing aid in right ear | Original subject III.2\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III3 | Fam | M | N | Y | D | ND | / | / | / | / | Diabetes in sixth decade and gradual hearing loss; Died of myocardial infarction | Original subject III.3; died of myocardial infarction. |
| 4 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III6 | Fam | M | N | Y | A | 50 | / | / | / | / | Bilateral high\-pitch hearing loss; OGTT within NIDDM criteria | Original subject III.6\. |
| 5 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-IV6 | Fam | F | N | Y | A | 29 | / | / | / | / | Gestational diabetes mellitus during recent pregnancy. | Original subject IV.6; gestational diabetes |
| 6 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-IV4 | Fam | F | N | Y | A | 38 | / | / | / | / | Fatigue, muscle weakness, occasional limb pain, abnormal glucose tolerance, occasional ragged\-red fibers | Original subject IV.4\. |
| 7 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-V9 | Fam | M | N | N | A | 16 | / | / | / | / | Healthy | Original subject V.9; Healthy |

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