A3243G-F504

**Figure 1\. Pedigree diagram for family A3243G\-F504\.**

![](/media/202607/A3243G-F504-pedigree_20260701031448199271.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\-F504 | Morocco | MELAS; late\-onset stroke\-like episodes; diabetes and hearing loss | 2 | 2 | 2009 | [19376555](https://pubmed.ncbi.nlm.nih.gov/19376555/) | Fig.1A pedigree; mother inferred only for G/H. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F504 from Morocco with melas; late\-onset stroke\-like episodes; diabetes and hearing loss. The pedigree record reported 2 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 diabetes, stroke, hypertension, renal insufficiency and hearing loss reported for the two younger brothers as a group, late\-onset melas with transient stroke\-like episodes, progressive sensorineural hearing loss, polyneuropathy, proximal myopathy.

# 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\-F504 | A3243G\-F504\-II1 | Fam | M | N | Y | ND | ND | / | / | / | / | Diabetes, stroke, hypertension, renal insufficiency and hearing loss reported for the two younger brothers as a group | Same mtDNA mutation detected in blood of the proband's two brothers; Affected brother in Fig.1A |
| 2 | 3243 | m.3243A\>G | A3243G\-F504 | A3243G\-F504\-II2 | Fam | M | Y | Y | A | 68 | / | 50% | / | / | Late\-onset MELAS with transient stroke\-like episodes, diabetes, progressive sensorineural hearing loss, polyneuropathy, proximal myopathy, ataxia and elevated lactate | Vastus lateralis muscle A3243G estimated 50% heteroplasmy. |
| 3 | 3243 | m.3243A\>G | A3243G\-F504 | A3243G\-F504\-II4 | Fam | M | N | Y | ND | ND | / | / | / | / | Diabetes, stroke, hypertension, renal insufficiency and hearing loss reported for the two younger brothers as a group | Same mtDNA mutation detected in blood of the proband's two brothers; Affected brother in Fig.1A |

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