T8936A-F1

**Figure 1\. Pedigree diagram for family T8936A\-F1\.**

![](/media/202607/T8936A-F1-pedigree_20260701004004070829.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 | 8936 | m.8936T\>A | T8936A\-F1 | India | Atypical Leigh syndrome with bilateral basal ganglia calcifications | 1 | 2 | 2018 | [29929013](https://pubmed.ncbi.nlm.nih.gov/29929013/) |  |

The **m.8936T\>A** variant in MT\-ATP6 was reported in family T8936A\-F1 from India with atypical leigh syndrome with bilateral basal ganglia calcifications. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was died at birth due to meconium aspiration, affected in pedigree., died at 2 months due to severe respiratory infection, atypical leigh syndrome, impaired speech, behavioral disturbance, cognitive impairment, delayed cry and milestones.

# 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 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-I1 | Uninf | F | N | N | A | ND | 6\.28% | / | / | saliva: 5\.71% | Healthy/unaffected mother. |  |
| 2 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-II1 | Fam | M | N | Y | D | newborn | / | / | / | / | Died at birth due to meconium aspiration; affected in pedigree. |  |
| 3 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-II2 | Fam | F | N | Y | D | 2 mo | / | / | / | / | Died at 2 months due to severe respiratory infection; affected in pedigree. |  |
| 4 | 8936 | m.8936T\>A | T8936A\-F1 | T8936A\-F1\-II3 | Fam | M | Y | Y | A | 9 | 10\.92% | / | / | saliva: 8\.26% | Atypical Leigh syndrome; impaired speech; behavioral disturbance; cognitive impairment; delayed cry and milestones; began walking at age 3; bilateral basal ganglia calcification; focal ventricular dilatation. |  |

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