A3243G-F201

**Figure 1\. Pedigree diagram for family A3243G\-F201\.**

![](/media/202607/A3243G-F201-pedigree_20260701030018058448.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\-F201 | Belgium | Diabetes, sensorineural hearing loss, and macular pattern dystrophy | 2 | 1 | 1997 | [9196933](https://pubmed.ncbi.nlm.nih.gov/9196933/) | Cases 2 and 3 are sisters; Case 2's three sons all harbor A3243G in variable degree. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F201 from Belgium with diabetes, sensorineural hearing loss, and macular pattern dystrophy. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was diabetes with prior ketoacidotic episode, progressive sensorineural hearing loss requiring hearing aid, macular pattern dystrophy, diabetes for 9 years, hearing loss since childhood with recent worsening, macular dystrophy, no diabetes or deafness, normal vision and color contrast sensitivity.

# 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\-F201 | A3243G\-F201\-P2 | Fam | F | Y | Y | A | 40 | / | / | / | / | Diabetes with prior ketoacidotic episode; Progressive sensorineural hearing loss requiring hearing aid; Macular pattern dystrophy | A3243G detected; exact tissue percentages not numerically reported. |
| 2 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P3 | Fam | F | Y | Y | A | 39 | / | / | / | / | Diabetes for 9 years; Hearing loss since childhood with recent worsening; Macular dystrophy | A3243G detected; exact tissue percentages not numerically reported; Sister of Case 2 |
| 3 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P1 | Fam | M | N | Y | A | 10 | / | / | / | / | No diabetes or deafness; Normal vision and color contrast sensitivity | Son of Case 2; harbored the same mutation in variable degree. |
| 4 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P4 | Fam | M | N | Y | A | 9 | / | / | / | / | No diabetes or deafness; Normal vision and color contrast sensitivity | Son of Case 2; harbored the same mutation in variable degree. |
| 5 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P5 | Fam | M | N | Y | A | 6 | / | / | / | / | No diabetes or deafness; Mild macular pigmentary changes | Youngest son; blood sample unavailable; buccal samples positive and reported as highest mutation percentage in the family. |

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