A13528G-F2

**Figure 1\. Pedigree diagram for family A13528G\-F2\.**

![](/media/202607/A13528G-F2-pedigree_20260701012842389057.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 | 13528 | m.13528A\>G | A13528G\-F2 | UK | MELAS | 1 | 0 | 2007 | [17940288](https://pubmed.ncbi.nlm.nih.gov/17940288/) | two target variants carried in same maternal line.; Patient 1 and mother; pages 1,3,4,7; UK mitochondrial disease centre / UCL affiliations |

The **m.13528A\>G** variant in MT\-ND5 was reported in family A13528G\-F2 from UK with melas. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, neuropathy, hearing impairment.

# 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 | 13528 | m.13528A\>G | A13528G\-F2 | A13528G\-F2\-II1 | Fam | F | Y | Y | ND | ND | m.13528A\>G 99\.9%; m.13565C\>T Homo | m.13528A\>G Homo; m.13565C\>T Homo | / | Homo(F) | MELAS; neuropathy; hearing impairment | patient muscle homoplasmic for both; blood near homoplasmic for m.13528; results/discussion; Source: Patient 1; Daughter/proband; same report also supports separate C13565T family.; COX\-negative ragged\-red fibers. |
| 2 | 13528 | m.13528A\>G | A13528G\-F2 | A13528G\-F2\-I2 | Fam | F | N | N | ND | 65 | m.13528A\>G approx 93\.9%; m.13565C\>T Homo | / | / | / | Healthy | 6\.1% wild type at m.13528 in blood; discussion; Source: mother |

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