A3243G-F379

**Figure 1\. Pedigree diagram for family A3243G\-F379\.**

![](/media/202607/A3243G-F379-pedigree_20260701030841500102.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\-F379 | Finland | MIDD/MODY cosegregation in a Finnish pedigree | 5 | 8 | 2004 | [15220216](https://pubmed.ncbi.nlm.nih.gov/15220216/) | Fig. 1 pedigree plus Table 1; includes I:2 as an eligible negative\-tested branch stop. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F379 from Finland with midd/mody cosegregation in a finnish pedigree. The pedigree record reported 5 unaffected and 8 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 0/14 listed carriers; 11/14 carriers were affected, and the main clinical manifestation among affected carriers was diabetes onset 60, obese, type 2 diabetes susceptibility variants reported, diabetes onset 43, insulin treatment, myocardial infarction, diabetes onset 45, oral treatment plus insulin.

# 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\-F379 | A3243G\-F379\-I2 | Uninf | F | ND | Y | A | 65 | \<5% | / | / | / | Diabetes onset 60; Obese; Type 2 diabetes susceptibility variants reported | Fig. 1/Table 1 Mt\- in PBL; paper says low levels in other tissues cannot be excluded. Eligible negative\-tested maternal\-line branch stop; no HNF1A M626K mutation |
| 2 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I6 | Uninf | M | ND | Y | A | 51 | 17% | / | / | / | Diabetes onset 43; Insulin treatment; Myocardial infarction | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 3 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I7 | Uninf | M | ND | Y | A | 52 | 13% | / | / | / | Diabetes onset 45; Oral treatment plus insulin; Hypertension | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 4 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I3 | Uninf | M | ND | Y | A | 61 | 16% | / | / | / | Diabetes onset 48; Insulin treatment; Hearing loss; Hypertension; Coronary heart disease | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 5 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I5 | Uninf | M | ND | N | A | 55 | 19% | / | / | / | Nondiabetic carrier; Myocardial infarction; Asthma | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 6 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II1 | Fam | M | ND | N | A | 46 | 28% | / | / | / | Nondiabetic carrier; Glaucoma | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 7 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II2 | Fam | M | ND | Y | A | 41 | 34% | / | / | / | Nondiabetic carrier; Hypertension; Asthma | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 8 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-III7 | Fam | M | ND | Y | A | 17 | 8% | / | / | / | Severe mental retardation; Marked sensory neural symptoms; No diabetes reported | Table 1/Fig. 1 Mt\+; HNF1A\-wt; paper says neurologic symptoms may be due to asphyxia and not MIDD. |
| 9 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I4 | Uninf | F | ND | Y | A | 56 | 19% | / | / | / | Diabetes onset 21; Short stature; Hearing loss; Hypertension; Cardiomyopathy; MELAS | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 10 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II6 | Fam | F | ND | Y | A | 30 | 42% | / | / | / | Diabetes onset 22; Short stature; Hearing loss; Mild mental retardation; Pigment epithelium degeneration; Facial palsy; Muscle spasticity | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 11 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II5 | Fam | M | ND | Y | A | 26 | 45% | / | / | / | Diabetes onset 24; Insulin treatment | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 12 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I1 | Uninf | F | ND | Y | A | 65 | \<5% | / | / | / | Diabetes onset 58; Diet treatment | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 13 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II4 | Fam | F | ND | Y | A | 44 | \<5% | / | / | / | Short stature; Hearing loss; Sporadic headache; Impaired cognitive function; Epilepsy | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 14 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II3 | Fam | F | ND | N | A | 48 | 5% | / | / | / | Nondiabetic carrier; Sporadic headache | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |

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