A4316G-F1

**Figure 1\. Pedigree diagram for family A4316G\-F1\.**

![](/media/202607/A4316G-F1-pedigree_20260701023137676420.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 | 4316 | m.4316A\>G | A4316G\-F1 | Tunisia | Hypertrophic cardiomyopathy, profound hearing loss | 3 | 0 | 2011 | [21144833](https://pubmed.ncbi.nlm.nih.gov/21144833/) | Carrying A3395G |

The **m.4316A\>G** variant in MT\-TI was reported in family A4316G\-F1 from Tunisia with hypertrophic cardiomyopathy, profound hearing loss. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was hypertrophic cardiomyopathy, profound hearing loss, buccal cyanosis, mitral murmur, choking, bilateral sensorineural hearing loss.

# 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 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-I2 | Fam | F | N | N | A | ND | 82% | / | / | / | Healthy |  |
| 2 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-II1 | Fam | F | Y | Y | A | 1 | 97% | / | / | / | Hypertrophic cardiomyopathy, profound hearing loss, buccal cyanosis, mitral murmur, choking, bilateral sensorineural hearing loss |  |
| 3 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-II2 | Fam | F | N | N | A | 5 | 42% | / | / | / | Healthy |  |
| 4 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-II3 | Fam | F | N | N | A | 20 months | 46% | / | / | / | Healthy |  |

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