A3243G-F117

**Figure 1\. Pedigree diagram for family A3243G\-F117\.**

![](/media/202607/A3243G-F117-pedigree_20260701024919940927.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\-F117 | Australia | Mild isolated deafness in fourth\-generation members of a pedigree | 0 | 0 | 1994 | [8042948](https://pubmed.ncbi.nlm.nih.gov/8042948/) | Patients 20 and 21 are reported as fourth\-generation members of a pedigree, but the supplied PDF does not show the pedigree or define their maternal relationship. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F117 from Australia with mild isolated deafness in fourth\-generation members of a pedigree. The pedigree record reported 0 unaffected and 0 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 mild isolated deafness.

# 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\-F117 | A3243G\-F117\-P1 | Fam | M | N | Y | ND | 39 | / | / | / | / | Mild isolated deafness | Patient 20; same pedigree as patient 21; detailed pedigree published elsewhere, not in this PDF; fourth\-generation member of a pedigree |
| 2 | 3243 | m.3243A\>G | A3243G\-F117 | A3243G\-F117\-P2 | Fam | F | N | Y | ND | 34 | / | / | / | / | Mild isolated deafness | Patient 21; same pedigree as patient 20 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).