A7472C-F3

**Figure 1\. Pedigree diagram for family A7472C\-F3\.**

![](/media/202606/20260622183605024170.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7472 | m.7472A\>C | A7472C\-F3 | Italy | Rapidly progressive neurodegeneration | 4 | 1 | 2006 | [16368237](https://pubmed.ncbi.nlm.nih.gov/16368237/) |  |

The **m.7472A\>C** variant in MT\-TS1 was reported in family A7472C\-F3 from Italy with rapidly progressive neurodegeneration. The pedigree record reported 4 unaffected and 1 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 2/6 carriers were affected, and the main clinical manifestation among affected carriers was mild hearing loss, rapidly progressive neurodegeneration.

# 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 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-I1 | Uninf | F | N | N | A | ND | 94% | / | / | / | Healthy |  |
| 2 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-II1 | Fam | F | N | N | A | ND | 89% | / | / | / | Healthy |  |
| 3 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-II2 | Fam | F | N | N | A | ND | 86% | / | / | / | Healthy |  |
| 4 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-II3 | Fam | F | N | Y | A | ND | 92% | 92% | / | / | Mild hearing loss |  |
| 5 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-III1 | Fam | M | Y | Y | A | 31 | 56% | 56% | / | / | Rapidly progressive neurodegeneration |  |
| 6 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-III2 | Fam | F | N | N | A | ND | 4\.7% | / | / | / | Healthy |  |

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