G13513A-F74

**Figure 1\. Pedigree diagram for family G13513A\-F74\.**

![](/media/202607/G13513A-F74-pedigree_20260701013627536861.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 | 13513 | m.13513G\>A | G13513A\-F74 | China | LHON | 4 | 0 | 2021 | [33746872](https://pubmed.ncbi.nlm.nih.gov/33746872/) | NGS missed mother; pyrosequencing found 1\.9%.; Chinese LHON family; pages 3\-6; Chinese family stated in article |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F74 from China with lhon. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was isolated lhon, bilateral visual loss, optic neuropathy.

# 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 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II4 | Fam | M | Y | Y | ND | 16 | 33\.56%; 26%; 22\.4% | / | / | / | isolated LHON; bilateral visual loss/optic neuropathy | 33\.56% at 3 months and 26% at 3 years by NGS; 22\.4% by pyrosequencing; case text and Fig. 2; Source: II\-4 |
| 2 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-I2 | Fam | F | N | N | ND | ND | 1\.9% by pyrosequencing; NGS negative | / | / | / | Healthy | low\-level carrier; Fig. 2; Source: I\-2 mother |
| 3 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II3 | Fam | F | N | N | ND | ND | 0% | / | / | / | Healthy | II\-3 sister had 0% m.13513G\>A by pyrosequencing; mother I\-2 was low\-level positive at 1\.9%; included per new skill rule for negative\-tested maternal\-line descendant.; No systemic or ophthalmic abnormalities reported. |
| 4 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II1 | Fam | M | N | N | ND | ND | 0% | / | / | / | Healthy | II\-1 half\-brother had 0% m.13513G\>A by pyrosequencing; mother I\-2 was low\-level positive at 1\.9%; included per new skill rule for negative\-tested maternal\-line descendant.; No systemic or ophthalmic abnormalities reported. |
| 5 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II2 | Fam | F | N | N | ND | ND | 0% | / | / | / | Healthy | II\-2 half\-sister had 0% m.13513G\>A by pyrosequencing; mother I\-2 was low\-level positive at 1\.9%; included per new skill rule for negative\-tested maternal\-line descendant.; No systemic or ophthalmic abnormalities reported. |

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