A3243G-F561

**Figure 1\. Pedigree diagram for family A3243G\-F561\.**

![](/media/202607/A3243G-F561-pedigree_20260701031646293604.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\-F561 | Netherlands | MIDD evolving into MELAS; diabetes; deafness; insulin resistance | 1 | 4 | 2012 | [23230016](https://pubmed.ncbi.nlm.nih.gov/23230016/) | Figure 1 pedigree. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F561 from Netherlands with midd evolving into melas; diabetes; deafness; insulin resistance. The pedigree record reported 1 unaffected and 4 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 5/6 carriers were affected, and the main clinical manifestation among affected carriers was insulin\-dependent diabetes mellitus and deafness, diabetes and deafness, progressive insulin resistance, midd evolving into melas, diabetes, sensorineural deafness, stroke\-like episodes, severe insulin resistance.

# 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\-F561 | A3243G\-F561\-I2 | Uninf | F | N | Y | A | DM onset 53 | 2\.5% | / | / | / | Insulin\-dependent diabetes mellitus and deafness | Mother in Figure 1; peripheral blood leukocyte heteroplasmy. |
| 2 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II1 | Fam | M | N | Y | A | DM onset 49 | 15% | / | / | / | Diabetes and deafness; Progressive insulin resistance | Figure 1; peripheral blood leukocyte heteroplasmy; in family context |
| 3 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II2 | Fam | M | Y | Y | D | DM onset 29; died 62 | 20% | 83%; 84% | / | / | MIDD evolving into MELAS; Diabetes; Sensorineural deafness; Stroke\-like episodes; Severe insulin resistance; Mitochondrial myopathy; Right ventricular failure | Explicit proband in Figure 1; muscle heteroplasmy reported as 83% in figure and 84% in text. |
| 4 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II3 | Fam | F | N | N | A | ND | \<5% | / | / | / | Healthy | Eligible negative/less\-than\-detection child of target\-positive mother; Figure 1 reports '\- or \<5%' in blood, recorded as 0 and treated as a branch stop; Healthy |
| 5 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II4 | Fam | F | N | Y | A | DM onset 27 | 20% | / | / | / | Diabetes/deafness phenotype with progressive disease and insulin resistance | Figure 1; peripheral blood leukocyte heteroplasmy; in family context |
| 6 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II5 | Fam | F | N | Y | A | DM onset 34 | 23% | 77% | / | / | Diabetes/deafness phenotype | Figure 1; peripheral blood leukocyte heteroplasmy with muscle value in parentheses |

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