A3243G-F626

**Figure 1\. Pedigree diagram for family A3243G\-F626\.**

![](/media/202607/A3243G-F626-pedigree_20260701032000164171.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\-F626 | China | Mitochondrial cardiomyopathy with chronic intestinal pseudo\-obstruction and m.3243A\>G | 0 | 1 | 2020 | [32554818](https://pubmed.ncbi.nlm.nih.gov/32554818/) | Original case report; older daughter entered under target\-positive mother plus explicit child phenotype rule. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F626 from China with mitochondrial cardiomyopathy with chronic intestinal pseudo\-obstruction and m.3243a\>g. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was heart failure, hypertrophic, mitochondrial cardiomyopathy, chronic intestinal pseudo\-obstruction, bilateral sensorineural hearing loss, basal ganglia calcification, squint since childhood, suggestive of ophthalmoplegia.

# 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\-F626 | A3243G\-F626\-P1 | Fam | F | Y | Y | A | 57 | 10% | / | / | 77%(Large bowel); 66%(Large bowel); 46%(Large bowel) | Heart failure; Hypertrophic/mitochondrial cardiomyopathy; Chronic intestinal pseudo\-obstruction; Bilateral sensorineural hearing loss; Basal ganglia calcification | Blood heteroplasmy about 10%; resected large bowel microdissection showed higher tissue loads. |
| 2 | 3243 | m.3243A\>G | A3243G\-F626 | A3243G\-F626\-P2 | Fam | F | N | Y | A | about 25 | / | / | / | / | Squint since childhood, suggestive of ophthalmoplegia | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |

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