A3243G-F608

**Figure 1\. Pedigree diagram for family A3243G\-F608\.**

![](/media/202607/A3243G-F608-pedigree_20260701031907251944.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\-F608 | China | MELAS\+MIDD; diabetes; hearing loss | 0 | 6 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Seven Han Chinese family series; blood PSQ values used as final loads. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F608 from China with melas\+midd; diabetes; hearing loss. The pedigree record reported 0 unaffected and 6 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 7/7 carriers were affected, and the main clinical manifestation among affected carriers was melas\+midd: seizure, dementia, visual disturbance, hearing loss and diabetes, diabetes mellitus, moderate hearing loss.

# 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\-F608 | A3243G\-F608\-III8 | Fam | M | Y | Y | A | 43 | 29% | / | / | / | MELAS\+MIDD: seizure, dementia, visual disturbance, hearing loss and diabetes | Table 1 PSQ final value; RFLP 15\.7%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-II2 | Fam | F | N | Y | A | 80 | 0% | / | / | / | Diabetes mellitus | Table 1 PSQ final value 0%; RFLP 3\.7%. Included as eligible negative/low\-load maternal\-line record and branch stop. |
| 3 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-II7 | Fam | F | N | Y | A | 58 | 2% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 4\.6%. |
| 4 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III2 | Fam | M | N | Y | A | 55 | 14% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 5\.2%. |
| 5 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III3 | Fam | F | N | Y | A | 50 | 13% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 2\.1%. |
| 6 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III4 | Fam | F | N | Y | A | 46 | 10% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 3\.4%. |
| 7 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-II5 | Fam | F | N | Y | A | 70 | 6% | / | / | / | Moderate hearing loss | Table 1 PSQ final value; RFLP 4\.0%. |

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