A3243G-F168

**Figure 1\. Pedigree diagram for family A3243G\-F168\.**

![](/media/202607/A3243G-F168-pedigree_20260701025515341158.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\-F168 | Spain | MELAS, IDDM, hearing loss, migraine, exercise intolerance | 0 | 2 | 1995 | [7732778](https://pubmed.ncbi.nlm.nih.gov/7732778/) | Pedigree A; II\-1 is included under the positive\-mother plus explicit phenotype rule. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F168 from Spain with melas, iddm, hearing loss, migraine, exercise intolerance. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was iddm and slight exercise intolerance, melas, iddm, ketoacidosis, hearing impairment, migraine, seizures, status epilepticus.

# 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\-F168 | A3243G\-F168\-I1 | Uninf | F | N | Y | A | 54 | / | 40% | / | / | IDDM and slight exercise intolerance | Muscle alone was studied in Pedigree A I\-1; Figure/Table 1 reports M\=40%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F168 | A3243G\-F168\-II1 | Fam | M | Y | Y | D | 24 | / | / | / | / | MELAS, IDDM/ketoacidosis, hearing impairment, migraine, seizures/status epilepticus, hypertrophic cardiomyopathy, short stature | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 3 | 3243 | m.3243A\>G | A3243G\-F168 | A3243G\-F168\-II2 | Fam | F | N | Y | A | 27 | / | 70% | / | / | Exercise intolerance, migraine/headache with vomiting, progressive bilateral hearing loss, short stature | Muscle alone was studied in Pedigree A II\-2; Figure/Table 1 reports M\=70%. |

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