A14596T-F1

**Figure 1\. Pedigree diagram for family A14596T\-F1\.**

![](/media/202606/20260630174128227438.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14596 | m.14596A\>T | A14596T\-F1 | Netherlands | LHON and hereditary spastic dystonia | 4 | 8\_or\_9 | 1996 | [8644732](https://pubmed.ncbi.nlm.nih.gov/8644732/) |  |

The **m.14596A\>T** variant in MT\-ND6 was reported in family A14596T\-F1 from Netherlands with lhon and hereditary spastic dystonia. The pedigree record reported 4 unaffected and 8\_or\_9 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 13/14 listed carriers; 10/14 carriers were affected, and the main clinical manifestation among affected carriers was phenotype not individually mapped from available text, lhon and dystonia, lhon and bilateral neurological disease, died in nursing home.

# 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 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-V3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label V\-21 |
| 2 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-V4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label V\-22 |
| 3 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI1 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-2 |
| 4 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI2 | Fam | F | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-5 |
| 5 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI3 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON and dystonia | Original label VI\-12 |
| 6 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI5 | Fam | M | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-30 |
| 7 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI6 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-31 |
| 8 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI8 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-33 |
| 9 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI9 | Fam | M | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-55 |
| 10 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI10 | Fam | F | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VI\-57 |
| 11 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VII1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VII\-26 |
| 12 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VII2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VII\-54 |
| 13 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VII3 | Fam | M | N | N | A | ND | Homo | / | / | / | Phenotype not individually mapped from available text | Original label VII\-55 |
| 14 | 14596 | m.14596A\>T | A14596T\-F1 | A14596T\-F1\-VI7 | Fam | M | N | Y | D | 59y | / | / | / | Homo (F); Homo (brain) | LHON and bilateral neurological disease; died in nursing home | Original label VI\-32 |

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