A3243G-F442

**Figure 1\. Pedigree diagram for family A3243G\-F442\.**

![](/media/202607/A3243G-F442-pedigree_20260701031209576869.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\-F442 | Japan | Alport\-like renal disease/proteinuria; sensorineural hearing loss; diabetes | 0 | 3 | 2008 | [18180872](https://pubmed.ncbi.nlm.nih.gov/18180872/) | Mother and maternal grandmother are G/H\-only clinical maternal relatives; carrier rows are restricted to proband and elder sister with WBC A3243G positivity. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F442 from Japan with alport\-like renal disease/proteinuria; sensorineural hearing loss; diabetes. The pedigree record reported 0 unaffected and 3 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 proteinuria and slight renal dysfunction, diabetes from age 32, mild sensorineural hearing loss, tinnitus since age 29, alport\-like mitochondrial disease, elder sister, proteinuria from teens, dialysis at age 32\.

# 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\-F442 | A3243G\-F442\-III2 | Fam | M | Y | Y | A | 38 | / | / | / | / | Proteinuria and slight renal dysfunction; Diabetes from age 32; Mild sensorineural hearing loss/tinnitus since age 29; Alport\-like mitochondrial disease | / |
| 2 | 3243 | m.3243A\>G | A3243G\-F442 | A3243G\-F442\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | Elder sister; Proteinuria from teens, dialysis at age 32, moderate bilateral sensorineural hearing loss, bilateral hearing aids at 35 | / |

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