G5532A-F1

**Figure 1\. Pedigree diagram for family G5532A\-F1\.**

![](/media/202607/G5532A-F1-pedigree_20260701032430569503.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 | 5532 | M.5532G\>A | G5532A\-F1 | UK | Mitochondrial neurogastrointestinal syndrome | 2 | 0 | 2004 | [15054399](https://pubmed.ncbi.nlm.nih.gov/15054399/) |  |

The **m.5532G\>A** variant in MT\-TW was reported in family G5532A\-F1 from UK with mitochondrial neurogastrointestinal syndrome. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial neurogastrointestinal syndrome.

# 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 | 5532 | M.5532G\>A | G5532A\-F1 | G5532A\-F1\-I2 | Uninf | F | N | N | A | ND | 7% | / | / | / | Healthy |  |
| 2 | 5532 | M.5532G\>A | G5532A\-F1 | G5532A\-F1\-II1 | Fam | M | N | N | A | ND | 9% | / | / | / | Healthy |  |
| 3 | 5532 | M.5532G\>A | G5532A\-F1 | G5532A\-F1\-II2 | Fam | F | Y | Y | A | 9 | 21% | 92% | / | 37%(F) | Mitochondrial neurogastrointestinal syndrome |  |

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