A7472C-F4

**Figure 1\. Pedigree diagram for family A7472C\-F4\.**

![](/media/202606/20260622183622236311.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\-F4 | UK | Progressive myopathy, deafness, diabetes, respiratory chain abnormalities | 10 | 5 | 2008 | [18398437](https://pubmed.ncbi.nlm.nih.gov/18398437/) | Carrying 7472Cins |

The **m.7472A\>C** variant in MT\-TS1 was reported in family A7472C\-F4 from UK with progressive myopathy, deafness, diabetes, respiratory chain abnormalities. The pedigree record reported 10 unaffected and 5 affected maternal relatives, and the carrier table includes 16 listed carriers. Homoplasmy was reported in 6/16 listed carriers; 6/16 carriers were affected, and the main clinical manifestation among affected carriers was deafness, myopathy, diabetes.

# 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\-F4 | A7472C\-F4\-I1 | Uninf | F | N | Y | D | 93 | / | / | / | / | Deafness |  |
| 2 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-II1 | Fam | F | N | Y | A | 89 | Homo | / | Homo | / | Deafness | Carrying 7472Cins |
| 3 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-II2 | Fam | F | N | Y | A | 89 | Homo | / | Homo | / | Deafness | Carrying 7472Cins |
| 4 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-II5 | Fam | F | N | Y | A | 52 | Homo | Homo | Homo | / | Myopathy, deafness | Carrying 7472Cins |
| 5 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 6 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 7 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 8 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 9 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III5 | Fam | F | N | N | A | 50 | Homo | / | Homo | / | Healthy | Carrying 7472Cins |
| 10 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III6 | Fam | M | N | Y | D | 30 | Homo | / | Homo | / | Myopathy, deafness, diabetes | Carrying 7472Cins |
| 11 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III7 | Fam | F | Y | Y | A | 43 | Homo | Homo | Homo | Homo (F), Homo (BM) | Myopathy, deafness | Carrying 7472Cins |
| 12 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-IV1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 13 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-IV2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 14 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-IV3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 15 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-V1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 16 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-V2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |

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