A13514G-F5

**Figure 1\. Pedigree diagram for family A13514G\-F5\.**

![](/media/202607/A13514G-F5-pedigree_20260701012807682742.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 | 13514 | m.13514A\>G | A13514G\-F5 | UK/Pakistani | Leigh syndrome / isolated complex I deficiency | 2 | 0 | 2011 | [21712854](https://pubmed.ncbi.nlm.nih.gov/21712854/) | consanguinity did not imply recessive inheritance; mtDNA mutation maternally transmitted.; Patient 1 family; pages 1\-3; UK/Pakistani family; clinical care in UK |

The **m.13514A\>G** variant in MT\-ND5 was reported in family A13514G\-F5 from UK/Pakistani with leigh syndrome / isolated complex i deficiency. 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 microcephaly, seizures, psychomotor, language delay, leigh mri, ventilatory failure.

# 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 | 13514 | m.13514A\>G | A13514G\-F5 | A13514G\-F5\-III1 | Fam | F | Y | Y | D | 18 months onset; 30 months at death | / | 69% | / | 55%(F) | microcephaly; seizures; psychomotor/language delay; Leigh MRI; ventilatory failure | born to first\-cousin Pakistani parents; case report and results; Source: Patient 1 |
| 2 | 13514 | m.13514A\>G | A13514G\-F5 | A13514G\-F5\-II2 | Fam | F | N | N | ND | ND | 5% | / | 8% | 57%(BM) | Healthy | maternal transmission confirmed; results; Source: mother |
| 3 | 13514 | m.13514A\>G | A13514G\-F5 | A13514G\-F5\-III2 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |

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