A14091T-F1

**Figure 1\. Pedigree diagram for family A14091T\-F1\.**

![](/media/202607/A14091T-F1-pedigree_20260701013014109636.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 | 14091 | m.14091A\>T | A14091T\-F1 | USA | mitochondrial disease | 1 | 0 | 2013 | [23463613](https://pubmed.ncbi.nlm.nih.gov/23463613/) | Inherited from mother; grandmother is test\-negative, not a carrier row.; mtWGS case m.14091A\>T; pages 10 and 38; USA inferred from Baylor clinical laboratory cohort/submitting institution |

The **m.14091A\>T** variant in MT\-ND5 was reported in family A14091T\-F1 from USA with mitochondrial disease. The pedigree record reported 1 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 developmental delay, seizure, hearing loss, diabetes.

# 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 | 14091 | m.14091A\>T | A14091T\-F1 | A14091T\-F1\-II1 | Fam | ND | Y | Y | ND | 11 | 49\.1% | / | / | / | developmental delay; seizure; hearing loss; diabetes |  |
| 2 | 14091 | m.14091A\>T | A14091T\-F1 | A14091T\-F1\-I2 | Uninf | F | N | N | ND | ND | 37\.7% | / | / | / | Healthy |  |

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