G1644T-F1

**Figure 1\. Pedigree diagram for family G1644T\-F1\.**

![](/media/202606/20260625174534801283.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 | 1644 | m.1644G\>T | G1644T\-F1 | UK | Adult\-onset Leigh syndrome retinopathy | 3 | 2 | 1997 | [9270602](https://pubmed.ncbi.nlm.nih.gov/9270602/) | Carrying A8593G(100%) |

The **m.1644G\>T** variant in MT\-TV was reported in family G1644T\-F1 from UK with adult\-onset leigh syndrome retinopathy. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset leigh syndrome retinopathy, adult\-onset leigh syndrome, hypertrophic cardiomyopathy, developmental delay, ataxia, hypotonia.

# 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 | 1644 | m.1644G\>T | G1644T\-F1 | G1644T\-F1\-II2 | Fam | F | Y | Y | A | 43 | 65% | 71% | / | / | Adult\-onset Leigh syndrome retinopathy | carrying A8593G(100%) |
| 2 | 1644 | m.1644G\>T | G1644T\-F1 | G1644T\-F1\-II3 | Fam | M | N | Y | A | 38 | 80% | 87% | / | / | Adult\-onset Leigh syndrome | carrying A8593G(100%) |
| 3 | 1644 | m.1644G\>T | G1644T\-F1 | G1644T\-F1\-III2 | Fam | F | N | Y | A | 3 | 87% | / | / | 90%(F) | Hypertrophic cardiomyopathy, developmental delay, ataxia, hypotonia | carrying A8593G(100%) |

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