G1606A-F1

**Figure 1\. Pedigree diagram for family G1606A\-F1\.**

![](/media/202606/20260625174319048793.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1606 | m.1606G\>A | G1606A\-F1 | Italy | Progressive ataxia, seizures, mental deterioration, mild myopathy, hearing loss, cataracts, myoclonus | 2 | 0 | 1998 | [9450773](https://pubmed.ncbi.nlm.nih.gov/9450773/) |  |

The **m.1606G\>A** variant in MT\-TV was reported in family G1606A\-F1 from Italy with progressive ataxia, seizures, mental deterioration, mild myopathy, hearing loss, cataracts, myoclonus. The pedigree record reported 2 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 progressive ataxia, seizures, mental deterioration, mild myopathy, hearing loss, cataracts, myoclonus.

# 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 | 1606 | m.1606G\>A | G1606A\-F1 | G1606A\-F1\-I2 | Fam | F | N | N | A | 76 | / | \<10% | / | / | Healthy |  |
| 2 | 1606 | m.1606G\>A | G1606A\-F1 | G1606A\-F1\-II1 | Fam | M | Y | Y | A | 48 | / | 67% | / | / | Progressive ataxia, seizures, mental deterioration, mild myopathy, hearing loss, cataracts, myoclonus |  |

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