A13528G-F4

**Figure 1\. Pedigree diagram for family A13528G\-F4\.**

![](/media/202607/A13528G-F4-pedigree_20260701012857903722.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\-F4 | Italy | Leber hereditary optic neuropathy / optic subatrophy | 8 | 1 | 2012 | [22589247](https://pubmed.ncbi.nlm.nih.gov/22589247/) | Authors conclude apparent heteroplasmy was explained by NumtS interference; variant may represent haplogroup U4b1b polymorphism.; Fig.1 family; Clinical pedigree and PCR\-RFLP/deep\-sequencing analyses of proband, mother, and sister.; Italy; Italian family and clinical workup reported by Italian centers |

The **m.13528A\>G** variant in MT\-ND5 was reported in family A13528G\-F4 from Italy with leber hereditary optic neuropathy / optic subatrophy. The pedigree record reported 8 unaffected and 1 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 3/10 listed carriers; 5/10 carriers were affected, and the main clinical manifestation among affected carriers was lhon phenotype, optic subatrophy, visual impairment, diabetes, renal failure, died at 13 years..

# 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\-F4 | A13528G\-F4\-II2 | Uninf | M | Y | Y | A | 50 | Homo | / | / | Homo(F) | LHON phenotype; optic subatrophy; visual impairment | Tested in blood and fibroblasts; apparent heteroplasmy explained by NumtS in the paper.; Fig.1 and PCR\-RFLP/deep sequencing text.; Source: II\-2 |
| 2 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy | Mother of proband; clinically healthy carrier.; Pedigree and PCR\-RFLP text.; Source: I\-2; No visual impairment reported. |
| 3 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II7 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy | Sister of proband; clinically healthy carrier.; Pedigree and PCR\-RFLP text.; Source: II\-7; No visual impairment reported. |
| 4 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II1 | Fam | M | N | N | A | 48 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 5 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II3 | Fam | F | N | Y | A | 52 | / | / | / | / | Diabetes | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported.; No visual impairment reported in pedigree. |
| 6 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II4 | Fam | M | N | N | A | 56 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 7 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II5 | Fam | F | N | Y | A | 58 | / | / | / | / | Diabetes | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported.; No visual impairment reported in pedigree. |
| 8 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II6 | Fam | M | N | N | A | 60 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 9 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II8 | Fam | M | N | Y | A | 65 | / | / | / | / | Diabetes | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported.; No visual impairment reported in pedigree. |
| 10 | 13528 | m.13528A\>G | A13528G\-F4 | A13528G\-F4\-II9 | Fam | F | N | Y | D | 13 | / | / | / | / | Renal failure; died at 13 years. | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |

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