A3243G-F316

**Figure 1\. Pedigree diagram for family A3243G\-F316\.**

![](/media/202607/A3243G-F316-pedigree_20260701030507158810.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\-F316 | Japan | FSGS/proteinuria with A3243G | 2 | 1 | 2001 | [11260383](https://pubmed.ncbi.nlm.nih.gov/11260383/) | Family 2 in Fig.2; includes the B/U\=0 daughter as an eligible negative\-tested maternal\-line descendant. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F316 from Japan with fsgs/proteinuria with a3243g. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, proteinuria onset at age 17, fsgs, stable renal function, proteinuria onset at age 14, fsgs on two biopsies, impaired glucose tolerance, renal function declined during follow\-up.

# 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\-F316 | A3243G\-F316\-P1 | Fam | F | N | Y | A | ND | 20% | / | 58% | / | Diabetes mellitus | Family 2 mother; Fig.2 reports B:20% and U:58%; Mother of Patients 2 and 3 |
| 2 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P2 | Fam | F | Y | Y | A | 32 | 19% | / | 60% | / | Proteinuria onset at age 17; FSGS; Stable renal function | Patient 2; Fig.2 reports B:19% and U:60%; Table 1 biopsy age 32; overt diabetes during first pregnancy |
| 3 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P3 | Fam | F | Y | Y | A | 18/27 | 17% | / | 69% | / | Proteinuria onset at age 14; FSGS on two biopsies; Impaired glucose tolerance; Renal function declined during follow\-up | Patient 3; Fig.2 reports B:17% and U:69%; Table 1 has two biopsy ages. |
| 4 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P4 | Fam | F | N | N | A | ND | 0 | / | 0 | / | Healthy | Eligible negative\-tested maternal\-line descendant; Fig.2 reports B:0% and U:0%; this negative\-tested person is a branch stop; Daughter of Patient 2; no disease symbol in pedigree |
| 5 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P5 | Fam | F | N | N | A | ND | 38% | / | 49% | / | Healthy | Fig.2 reports B:38% and U:49%; Daughter of Patient 3; A3243G\-positive descendant with no disease symbol in pedigree |

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