A3243G-F272

**Figure 1\. Pedigree diagram for family A3243G\-F272\.**

![](/media/202607/A3243G-F272-pedigree_20260701030331939139.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\-F272 | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 1 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 5; Table 1 lists proband 5\-1 and daughter 5\-2\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F272 from United Kingdom with midd; pigmentary retinal dystrophy. 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 midd, diabetes onset 66, deafness onset 66, retinal pigment changes, normal glucose tolerance, audiometric hearing loss, normal fundus.

# 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\-F272 | A3243G\-F272\-P1 | Fam | F | Y | Y | ND | 71 | / | / | / | / | MIDD; Diabetes onset 66, deafness onset 66, retinal pigment changes | Subject 5\-1; family proband. |
| 2 | 3243 | m.3243A\>G | A3243G\-F272 | A3243G\-F272\-P2 | Fam | F | N | Y | ND | 41 | / | / | / | / | Normal glucose tolerance, audiometric hearing loss, normal fundus | Subject 5\-2; Affected\=Y because hearing loss is reported despite no diabetes; Daughter of 5\-1 |

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