A3243G-F384

**Figure 1\. Pedigree diagram for family A3243G\-F384\.**

![](/media/202607/A3243G-F384-pedigree_20260701030916247687.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\-F384 | Finland | Childhood mitochondrial encephalomyopathy with A3243G; maternal gestational diabetes and hearing loss | 3 | 2 | 2004 | [15286228](https://pubmed.ncbi.nlm.nih.gov/15286228/) | Patient 3 family; healthy siblings included under target\-positive mother phenotype rule. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F384 from Finland with childhood mitochondrial encephalomyopathy with a3243g; maternal gestational diabetes and hearing loss. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 3/6 carriers were affected, and the main clinical manifestation among affected carriers was progressive sensorineural hearing loss, migraine, exercise intolerance, loss\-of\-tone attacks, delayed speech, school problems, moderate retardation, ragged\-red fibers.

# 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\-F384 | A3243G\-F384\-P3 | Fam | M | Y | Y | A | 16 | 64% | 83% | / | / | Progressive sensorineural hearing loss, migraine, exercise intolerance, loss\-of\-tone attacks, delayed speech/school problems, moderate retardation, ragged\-red fibers, cerebellar atrophy | Patient 3; Table 2 A3243G heteroplasmy. |
| 2 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P1 | Fam | F | N | Y | A | ND | 34% | / | / | / | Gestational diabetes during the last two pregnancies | Mother; Table 2 blood A3243G load. |
| 3 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P2 | Fam | F | N | Y | A | 57 onset | 29% | / | / | / | Sensorineural hearing loss at age 57 | Maternal grandmother; Table 2 blood A3243G load. |
| 4 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P4 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Healthy younger sibling |
| 5 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P5 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Healthy younger sibling |
| 6 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P6 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Healthy younger sibling |

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